The Experts below are selected from a list of 306 Experts worldwide ranked by ideXlab platform
Elliot M Frohman - One of the best experts on this subject based on the ideXlab platform.
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WEBINO and the return of the King's Speech.
Journal of the neurological sciences, 2011Co-Authors: Shin C Beh, Elliot M FrohmanAbstract:We present a 69 year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consistent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, vertical saccades and vestibular ocular reflexes were likewise impaired. Pupillary and levator palpebrae superioris functions were intact. Mild left-sided dysmetria, intention tremor and Dysdiadochokinesia were elicited. Conspicuously, further characterization of the patient's history revealed that he had stuttered as a child, but it had resolved in adolescence. Brain MRI revealed an acute infarction of the mesencephalic and upper pontine tegmentum involving the periaqueductal gray region and the medial longitudinal fasciculus bilaterally with greater involvement of the left. Like the WEBINO syndrome, re-emergent developmental stuttering is a rare neurologic phenomenon. To our knowledge, this is the first case report of a mesencephalic and upper pontine infarction causing both syndromes. We discuss the pathobiological underpinnings of the WEBINO syndrome and neurogenic stuttering and in relationship to this unusual case.
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WEBINO and the return of the King's Speech.
Journal of the Neurological Sciences, 2011Co-Authors: Shin C Beh, Elliot M FrohmanAbstract:article i nfo We present a 69 year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consis- tent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, vertical saccades and vestibular ocular reflexes were likewise impaired. Pupillary and levator palpebrae superioris functions were intact. Mild left-sided dysmetria, intention tremor and Dysdiadochokinesia were elicited. Con- spicuously, further characterization of the patient's history revealed that he had stuttered as a child, but it had resolved in adolescence. Brain MRI revealed an acute infarction of the mesencephalic and upper pontine tegmentum involving the periaqueductal gray region and the medial longitudinal fasciculus bilaterally with greater involvement of the left. Like the WEBINO syndrome, re-emergent developmental stuttering is a rare neurologic phenomenon. To our knowledge, this is the first case report of a mesencephalic and upper pontine infarction causing both syndromes. We discuss the pathobiological underpinnings of the WEBINO syndrome and neurogenic stuttering and in relationship to this unusual case.
R Allotey - One of the best experts on this subject based on the ideXlab platform.
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The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1
American journal of human genetics, 1995Co-Authors: R Allotey, R Twells, C Cemal, B S Norte, J Weissenbach, M. Pook, Robert Williamson, Susan ChamberlainAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders characterized by a predominantly cerebellar syndrome of onset with gait ataxia, dysarthria, dysmetria, and Dysdiadochokinesia. Pathologically, the disorders are characterized by premature neuronal loss in the cerebellar cortex and the inferior olivary and pontine nuclei, with degeneration of the spinal cord. We have previously assigned the spinocerebellar ataxia 2 locus to chromosome 12q23-24.1, within a 31-cM interval flanked by the loci D12S58 and PLA2. Linkage to SCA2 has been demonstrated in pedigrees from Europe, Japan, and North America, the latter serving to refine the candidate region to a 16-cM interval. We report here genetic analysis undertaken between SCA2 and nine microsatellite loci known to span 8 cM within this interval. 12 refs., 2 figs., 1 tab.
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Location of the spinal cerebellar ataxia 2 locus to a 1 cM interval on chromsome 12q23-24.1
American Journal of Human Genetics, 1994Co-Authors: R Allotey, R Twells, G OrozcoAbstract:Spinocerebellar ataxia 2 (SCA2) is a dominantly inherited neurodegenerative disorder characterised by progressive ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have previously assigned the disease locus to chromosome 12q23-24.1 in a population from the Holguin province, Cuba, within a 31 cM interval flanked by the anonymous marker D12S53 and the phospholipase A2 gene (PLA2). Clinical as much as genealogical and geographical evidence indicate that the Cuban pedigrees are homogeneous and descend from a common ancestor. We now report fine genetic mapping of the disease locus with fourteen microsatellite loci known to span this region, which positions SCA2 in a 1 cM interval defined by the loci D12S84-AFM291xe9. Observation of a common haplotype segregating with the disease supports the existence of a founder effect in the Holguin pedigrees.
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chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia sca2 to chromosome 12q23 24 1
Nature Genetics, 1993Co-Authors: Suzana Gispert, R Twells, G Orozco, A Brice, James L Weber, L Heredero, K Scheufler, Brien P Riley, R Allotey, C NothersAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23–24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1
Nature genetics, 1993Co-Authors: Suzana Gispert, R Twells, G Orozco, A Brice, James L Weber, L Heredero, K Scheufler, Brien P Riley, R Allotey, C NothersAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23–24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
Shin C Beh - One of the best experts on this subject based on the ideXlab platform.
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WEBINO and the return of the King's Speech.
Journal of the neurological sciences, 2011Co-Authors: Shin C Beh, Elliot M FrohmanAbstract:We present a 69 year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consistent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, vertical saccades and vestibular ocular reflexes were likewise impaired. Pupillary and levator palpebrae superioris functions were intact. Mild left-sided dysmetria, intention tremor and Dysdiadochokinesia were elicited. Conspicuously, further characterization of the patient's history revealed that he had stuttered as a child, but it had resolved in adolescence. Brain MRI revealed an acute infarction of the mesencephalic and upper pontine tegmentum involving the periaqueductal gray region and the medial longitudinal fasciculus bilaterally with greater involvement of the left. Like the WEBINO syndrome, re-emergent developmental stuttering is a rare neurologic phenomenon. To our knowledge, this is the first case report of a mesencephalic and upper pontine infarction causing both syndromes. We discuss the pathobiological underpinnings of the WEBINO syndrome and neurogenic stuttering and in relationship to this unusual case.
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WEBINO and the return of the King's Speech.
Journal of the Neurological Sciences, 2011Co-Authors: Shin C Beh, Elliot M FrohmanAbstract:article i nfo We present a 69 year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consis- tent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, vertical saccades and vestibular ocular reflexes were likewise impaired. Pupillary and levator palpebrae superioris functions were intact. Mild left-sided dysmetria, intention tremor and Dysdiadochokinesia were elicited. Con- spicuously, further characterization of the patient's history revealed that he had stuttered as a child, but it had resolved in adolescence. Brain MRI revealed an acute infarction of the mesencephalic and upper pontine tegmentum involving the periaqueductal gray region and the medial longitudinal fasciculus bilaterally with greater involvement of the left. Like the WEBINO syndrome, re-emergent developmental stuttering is a rare neurologic phenomenon. To our knowledge, this is the first case report of a mesencephalic and upper pontine infarction causing both syndromes. We discuss the pathobiological underpinnings of the WEBINO syndrome and neurogenic stuttering and in relationship to this unusual case.
Francisco Oscar De Siqueira Franca - One of the best experts on this subject based on the ideXlab platform.
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acute cerebellar dysfunction with neuromuscular manifestations after scorpionism presumably caused by tityus obscurus in santarem para brazil
Toxicon, 2015Co-Authors: Pasesa Pascuala Quispe Torrez, Mariana Quiroga, Paulo A M Abati, Melissa Mascheretti, Walter Silva Costa, Luciana P Campos, Francisco Oscar De Siqueira FrancaAbstract:Scorpionism is a public health problem in many tropical countries, especially in North Africa, South India, Latin America and the Middle East. In Brazil, patients with severe scorpion envenoming have mainly cardiovascular events, including acute heart failure, acute respiratory distress syndrome and shock, death is rare. We described 58 accidents presumably caused by Tityus obscurus in Brazilian Amazonia. Patients reported a sensation of "electric shocks" which could last hours. The vast majority of patients presented a clinical picture compatible with acute cerebellar dysfunction, beginning minutes and lasting up to 2 days after the accident. They presented cerebellar ataxia, Dysdiadochokinesia, dysmetry, dysarthria, dyslalia, nausea and vomiting. Besides, some patients presented myoclonus and fasciculation which can also be attributed to cerebellar dysfunction or maybe the result of direct action on skeletal muscle. Two patients had evidence of intense rhabdomyolysis and acute kidney injury. The clinical picture in this scorpion envenoming is mainly characterized by an acute dysfunction of cerebellar activities and abnormal neuromuscular manifestations and in some cases muscle injury which are not described in any other region of the world. This work presents clinical, epidemiologic, laboratory and treatment aspects of this unmatched scorpion envenoming in the state of Para, northern Brazil. Language: en
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Acute cerebellar dysfunction with neuromuscular manifestations after scorpionism presumably caused by Tityus obscurus in Santarém, Pará / Brazil.
Toxicon : official journal of the International Society on Toxinology, 2014Co-Authors: Pasesa Pascuala Quispe Torrez, Mariana Quiroga, Paulo A M Abati, Melissa Mascheretti, Walter Silva Costa, Luciana P Campos, Francisco Oscar De Siqueira FrancaAbstract:Abstract Scorpionism is a public health problem in many tropical countries, especially in North Africa, South India, Latin America and the Middle East. In Brazil, patients with severe scorpion envenoming have mainly cardiovascular events, including acute heart failure, acute respiratory distress syndrome and shock, death is rare. We described 58 accidents presumably caused by Tityus obscurus in Brazilian Amazonia. Patients reported a sensation of “electric shocks” which could last hours. The vast majority of patients presented a clinical picture compatible with acute cerebellar dysfunction, beginning minutes and lasting up to 2 days after the accident. They presented cerebellar ataxia, Dysdiadochokinesia, dysmetry, dysarthria, dyslalia, nausea and vomiting. Besides, some patients presented myoclonus and fasciculation which can also be attributed to cerebellar dysfunction or maybe the result of direct action on skeletal muscle. Two patients had evidence of intense rhabdomyolysis and acute kidney injury. The clinical picture in this scorpion envenoming is mainly characterized by an acute dysfunction of cerebellar activities and abnormal neuromuscular manifestations and in some cases muscle injury which are not described in any other region of the world. This work presents clinical, epidemiologic, laboratory and treatment aspects of this unmatched scorpion envenoming in the state of Para, northern Brazil.
R Twells - One of the best experts on this subject based on the ideXlab platform.
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The spinocerebellar ataxia 2 locus is located within a 3-cm interval on chromosome 12q23-24.1
American journal of human genetics, 1995Co-Authors: R Allotey, R Twells, C Cemal, B S Norte, J Weissenbach, M. Pook, Robert Williamson, Susan ChamberlainAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders characterized by a predominantly cerebellar syndrome of onset with gait ataxia, dysarthria, dysmetria, and Dysdiadochokinesia. Pathologically, the disorders are characterized by premature neuronal loss in the cerebellar cortex and the inferior olivary and pontine nuclei, with degeneration of the spinal cord. We have previously assigned the spinocerebellar ataxia 2 locus to chromosome 12q23-24.1, within a 31-cM interval flanked by the loci D12S58 and PLA2. Linkage to SCA2 has been demonstrated in pedigrees from Europe, Japan, and North America, the latter serving to refine the candidate region to a 16-cM interval. We report here genetic analysis undertaken between SCA2 and nine microsatellite loci known to span 8 cM within this interval. 12 refs., 2 figs., 1 tab.
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Location of the spinal cerebellar ataxia 2 locus to a 1 cM interval on chromsome 12q23-24.1
American Journal of Human Genetics, 1994Co-Authors: R Allotey, R Twells, G OrozcoAbstract:Spinocerebellar ataxia 2 (SCA2) is a dominantly inherited neurodegenerative disorder characterised by progressive ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have previously assigned the disease locus to chromosome 12q23-24.1 in a population from the Holguin province, Cuba, within a 31 cM interval flanked by the anonymous marker D12S53 and the phospholipase A2 gene (PLA2). Clinical as much as genealogical and geographical evidence indicate that the Cuban pedigrees are homogeneous and descend from a common ancestor. We now report fine genetic mapping of the disease locus with fourteen microsatellite loci known to span this region, which positions SCA2 in a 1 cM interval defined by the loci D12S84-AFM291xe9. Observation of a common haplotype segregating with the disease supports the existence of a founder effect in the Holguin pedigrees.
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chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia sca2 to chromosome 12q23 24 1
Nature Genetics, 1993Co-Authors: Suzana Gispert, R Twells, G Orozco, A Brice, James L Weber, L Heredero, K Scheufler, Brien P Riley, R Allotey, C NothersAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23–24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).
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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1
Nature genetics, 1993Co-Authors: Suzana Gispert, R Twells, G Orozco, A Brice, James L Weber, L Heredero, K Scheufler, Brien P Riley, R Allotey, C NothersAbstract:The autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders characterized by onset with gait ataxia, dysarthria, dysmetria and Dysdiadochokinesia. We have demonstrated previously genetic heterogeneity within these disorders by excluding the disease locus from the documented spinocerebellar ataxia locus (SCA1) on chromosome 6p in a large Cuban founder population. We now report the assignment of a second locus for ADCA (SCA2) to chromosome 12q23–24.1 following linkage analyses carried out for the Cuban pedigrees, with probable flanking markers D12S58 and phospholipase A2. Investigation of linkage to the interval containing SCA2 for seven French ADCA families, previously excluded from linkage to SCA1, provides preliminary data suggesting the existence of a third ADCA locus (SCA3).