The Experts below are selected from a list of 144 Experts worldwide ranked by ideXlab platform

S P Pavarini - One of the best experts on this subject based on the ideXlab platform.

  • Abiotrofia cerebelar em um canino American Staffordshire Terrier adulto no Brasil
    Acta Scientiae Veterinariae, 2020
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic findings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no significant findings. Various organ specimens were collected, fixed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofilaments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fibrillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical findings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identified as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, reflect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • Cerebellar Abiotrophy in an american staffordshire terrier adult dog in brazil
    Acta Scientiae Veterinariae, 2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • abiotrofi a cerebelar em um canino american staff ordshire terrier adulto no brasil Cerebellar Abiotrophy in an american staff ordshire terrier adult dog in brazil
    2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Marcele Bettim Bandinelli, D Driemeier, Angelica Terezinha, Barth Wouters, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

Cristine Mari - One of the best experts on this subject based on the ideXlab platform.

  • Abiotrofia cerebelar em um canino American Staffordshire Terrier adulto no Brasil
    Acta Scientiae Veterinariae, 2020
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic findings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no significant findings. Various organ specimens were collected, fixed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofilaments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fibrillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical findings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identified as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, reflect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • Cerebellar Abiotrophy in an american staffordshire terrier adult dog in brazil
    Acta Scientiae Veterinariae, 2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • abiotrofi a cerebelar em um canino american staff ordshire terrier adulto no brasil Cerebellar Abiotrophy in an american staff ordshire terrier adult dog in brazil
    2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Marcele Bettim Bandinelli, D Driemeier, Angelica Terezinha, Barth Wouters, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

M C T Penedo - One of the best experts on this subject based on the ideXlab platform.

  • variation in mutyh expression in arabian horses with Cerebellar Abiotrophy
    Brain Research, 2018
    Co-Authors: Erica Yuki Scott, Kevin Douglas Woolard, Carrie J. Finno, M C T Penedo, James D. Murray
    Abstract:

    Abstract Cerebellar Abiotrophy (CA) is a neurodegenerative disease in Arabian horses affecting the cerebellum, more specifically the Purkinje neurons. Although CA occurs in several domestic species, CA in Arabian horses is unique in that a single nucleotide polymorphism (SNP) has been associated with the disease. Total RNA sequencing (RNA-seq) was performed on CA-affected horses to address the molecular mechanism underlying the disease. This research expands upon the RNA-seq work by measuring the impact of the CA-associated SNP on the candidate gene MutY homolog (MUTYH) and its regulation, isoform-specific expression and protein localization. We hypothesized that the CA-associated SNP compromises the promoter region of MUTYH, leading to differential expression of its isoforms. Our research demonstrates that the CA-associated SNP introduces a new binding site for a novel transcription factor (Myelin Transcription Factor-1 Like protein, MYT1L). In addition, CA-affected horses show differential expression of a specific isoform of MUTYH as well as different localization in the Purkinje and granular neurons of the cerebellum.

  • Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy
    The Cerebellum, 2017
    Co-Authors: E. Y. Scott, M C T Penedo, J. D. Murray, C. J. Finno
    Abstract:

    Equine Cerebellar Abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in Cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log_2(foldchange) = 0.92, p  = 0.66) and MUTYH (Log_2(foldchange) = 1.13, p  = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log_2(foldchange) = −1.7, p  

  • defining trends in global gene expression in arabian horses with Cerebellar Abiotrophy
    The Cerebellum, 2017
    Co-Authors: E. Y. Scott, M C T Penedo, J. D. Murray, Carrie J. Finno
    Abstract:

    Equine Cerebellar Abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in Cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log2(foldchange) = 0.92, p = 0.66) and MUTYH (Log2(foldchange) = 1.13, p = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log2(foldchange) = −1.7, p < 0.01) and CA8 (Log2(foldchange) = −0.97, p < 0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log2(foldchange) = 1.99, p < 0.01) and TREM2 (Log2(foldchange) = 2.02, p < 0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells.

  • the frequency of the equine Cerebellar Abiotrophy mutation in non arabian horse breeds
    Equine Veterinary Journal, 2011
    Co-Authors: Leah S Brault, M C T Penedo
    Abstract:

    Summary Reasons for performing study: A putative mutation causative of Cerebellar Abiotrophy (CA), a genetic defect found almost exclusively in Arabian horses, was recently identified. Objectives and hypothesis: To investigate the presence of the CA mutation in breeds other than Arabian and ascertain whether the mutation had been introduced into these breeds by Arabian ancestry. The CA mutation is present in breeds of horses with Arabian ancestry. Methods: Allele-specific PCR was used to genotype 1845 non-Arabian horses for the CA mutation. For those breeds in which at least one carrier was identified, an additional 266 horses were genotyped to determine the frequency of the CA allele. Cerebellar Abiotrophy carriers were further genotyped for a haplotype segregating with CA in Arabians. Results: At least one CA carrier was identified in 3 breeds and the frequency of the CA allele calculated: Bashkir Curly Horses (2.8%), Trakehners (0.68%) and Welsh ponies (0.33%). Based on pedigree and haplotype analysis, CA was introduced into these breeds by Arabian ancestry. The Trakehner and Welsh pony carriers were at least half-Arabian, while the Bashkir Curly horses appeared to have had the CA allele introduced by a single Arabian stallion used for developing the breed in the 1960s. Conclusions: The CA mutation is present in breeds of horses that allow crossbreeding with Arabian horses and in breeds that have used Arabians as foundation stock during their development. Potential relevance: Breeds that allow registration of horses with Arabian ancestry should have any Arabian breeding stock tested for the mutation and breeds descended from Arabian ancestry should pursue genetic testing of breeding stock to prevent the occurrence of affected foals.

Daniele Mariath Bassuino - One of the best experts on this subject based on the ideXlab platform.

  • Abiotrofia cerebelar em um canino American Staffordshire Terrier adulto no Brasil
    Acta Scientiae Veterinariae, 2020
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic findings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no significant findings. Various organ specimens were collected, fixed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofilaments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fibrillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical findings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identified as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, reflect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • Cerebellar Abiotrophy in an american staffordshire terrier adult dog in brazil
    Acta Scientiae Veterinariae, 2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • abiotrofi a cerebelar em um canino american staff ordshire terrier adulto no brasil Cerebellar Abiotrophy in an american staff ordshire terrier adult dog in brazil
    2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Marcele Bettim Bandinelli, D Driemeier, Angelica Terezinha, Barth Wouters, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

Marcele Bettim Bandinelli - One of the best experts on this subject based on the ideXlab platform.

  • Abiotrofia cerebelar em um canino American Staffordshire Terrier adulto no Brasil
    Acta Scientiae Veterinariae, 2020
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic findings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no significant findings. Various organ specimens were collected, fixed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofilaments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fibrillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical findings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identified as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, reflect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • Cerebellar Abiotrophy in an american staffordshire terrier adult dog in brazil
    Acta Scientiae Veterinariae, 2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Angelica Terezinha Barth Wouters, Marcele Bettim Bandinelli, D Driemeier, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.

  • abiotrofi a cerebelar em um canino american staff ordshire terrier adulto no brasil Cerebellar Abiotrophy in an american staff ordshire terrier adult dog in brazil
    2014
    Co-Authors: Cristine Mari, Daniele Mariath Bassuino, Marcele Bettim Bandinelli, D Driemeier, Angelica Terezinha, Barth Wouters, S P Pavarini
    Abstract:

    Background: Cerebellar Abiotrophy is a spontaneous, progressive degenerative disease of the cerebellum in which Purkinje cell loss and functional disorders occur secondary to an intrinsic metabolic defect. Clinically, all animals with Cerebellar Abiotrophy are normal at birth, and neurological signs become evident during development. This work aimed to report and describe a case of Cerebellar cortical Abiotrophy in an adult American Staffordshire Terrier in Brazil, highlighting the pathologic fi ndings of the Cerebellar lesions. Case: A 10-year-old female American Staffordshire Terrier presented with a 3-year history of progressive neurological changes. These changes began with mild ataxia of the hind limbs that involved the forelimbs after 2 years. In the recent months prior to presentation, the patient spent most of her time lying down with a head tilt. When she stood with her head raised, she exhibited abasia and required a broad base of support. When she attempted to walk, she quickly fell and rolled over if not supported. She could not eat on her own because of intense intention tremors. Because of the severity of her condition, the decision was made to euthanize the animal. Necropsy examination revealed no signifi cant fi ndings. Various organ specimens were collected, fi xed in 10% formalin, and processed for routine histology. The tissue sections were stained with hematoxylin and eosin. Cerebellar specimens were subjected to immunohistochemistry (IHC). Two Cerebellar specimens from two normal 8- to 9-year-old American Staffordshire Terriers were used as positive controls for IHC and comparative evaluation of the lesions. Histologically, the main changes were observed in the cerebellum and were characterized by necrosis, degeneration, and marked segmental loss of Purkinje cells; moderate reduction in the granular cells of the Cerebellar cortex; and thinning of the molecular layer. Cerebellar IHC in the affected canine showed a slight reduction in immunoreactivity for neurofi laments in both the molecular layer and white matter as well as a marked increase in immunostaining for glial fi brillary acidic protein, indicating astrogliosis, in the molecular layer, granular layer, and white matter. Discussion: The diagnosis of Cerebellar Abiotrophy in this canine patient was based on clinical, pathologic, and immunohistochemical fi ndings. The framework Cerebellar syndrome in an adult dog, slowly progressive, as in this case (10 years old with a 3-year clinical progression) is compatible with Abiotrophy in the American Staffordshire Terrier. The main gross lesions observed in the cerebellum of canines with Abiotrophy are projected to decline; however, these changes can be subtle, as in this case. Histopathology revealed a primary loss of Purkinje cells and depletion of the molecular and granular layers. These characteristics have been identifi ed as hereditary in American Staffordshire Terriers and other breeds. The clinical signs observed in this patient, namely ataxia, intention tremors, and abasia, refl ect the loss of function of the inhibitory neurons of the Cerebellar cortex. The fact that Cerebellar Abiotrophy is relatively common in purebred dogs and the great variety in the early clinical signs and progression suggests different genetic etiologies in different breeds. An association with breed is evidenced by the fact that the clinical manifestations of Cerebellar Abiotrophy in American Staffordshire Terriers start late and have been shown to be hereditary. This paper reports the occurrence of Cerebellar cortex Abiotrophy as a cause of neurological disease in an American Staffordshire Terrier in Brazil.