The Experts below are selected from a list of 261 Experts worldwide ranked by ideXlab platform
Zbigniew K Wszolek - One of the best experts on this subject based on the ideXlab platform.
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trio Gene Segregation in a family with cerebellar ataxia p1 063
Neurology, 2018Co-Authors: Rana Hanna Alshaikh, Audrey Strongosky, Mavis Matthew, Ryan J Uitti, Paldeep S Atwal, Zbigniew K WszolekAbstract:Objective: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Background: Inherited ataxias are heteroGeneous group of conditions, with 43 different SCA subtype discovered thus far. TRIO Gene mutations have been previously correlated with developmental delay and autism. Gait ataxia was only detected in a single familial case harboring a p.Asn1080lle variant on exon 19 of TRIO Gene (Pengelly RJ et al., J Med Genet 2016;53:735–742). Design/Methods: Five family members of Caribbean descent were recruited through Mayo Clinic IRB approved ataxia research protocol; mother and all three children were found to be affected with severe young onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization (aCGH), mitochondrial DNA analysis (MtDNA), and whole exome sequencing (WES) were performed on three of the family members (mother and two daughters). Results: Maternal grandmother was unaffected. Mother and three children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Mother’s age of onset was at 17 years and age of onset in the children varied from 3 to 9 years of age. Average current disease duration is 21 years. WES showed a variant p.A1214v in exon 22 of the TRIO Gene in all three family members. aCGH and MtDNA were normal. Conclusions: TRIO p.A1214v variant is associated with cerebellar ataxia in our family, it was present in all affected family members and absent in unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on two affected Generations). It is warranted to screen more familial early onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel SCA subtype. Disclosure: Dr. Hanna AL-Shaikh has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Matthew has nothing to disclose. Dr. Atwal has nothing to disclose. Dr. Uitti has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
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trio Gene Segregation in a family with cerebellar ataxia
Neurologia I Neurochirurgia Polska, 2018Co-Authors: Rana Hanna Al Shaikh, Thomas R Caulfield, Audrey Strongosky, Mavis Matthew, Karen Jansenwest, Mercedes Prudencio, John D Fryer, Leonard Petrucelli, Ryan J Uitti, Zbigniew K WszolekAbstract:Aim of the study: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Materials and methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters). Results: While the maternal grandmother, great uncle and great aunt were unaffected, the mother and 3 children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Age of onset ranged between 3 and 17 years, with average current disease duration of 21 years. Whole-exome sequencing showed a variant p.A1214V in exon 22 of the TRIO Gene in 3 of the family members. Array comparative genomic hybridization and mitochondrial DNA analysis were normal. The same variant was later discovered in all but one family member. Conclusions and clinical implications: The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on 2 affected Generations). It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel spinocerebellar ataxia subtype.
Rana Hanna Alshaikh - One of the best experts on this subject based on the ideXlab platform.
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trio Gene Segregation in a family with cerebellar ataxia p1 063
Neurology, 2018Co-Authors: Rana Hanna Alshaikh, Audrey Strongosky, Mavis Matthew, Ryan J Uitti, Paldeep S Atwal, Zbigniew K WszolekAbstract:Objective: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Background: Inherited ataxias are heteroGeneous group of conditions, with 43 different SCA subtype discovered thus far. TRIO Gene mutations have been previously correlated with developmental delay and autism. Gait ataxia was only detected in a single familial case harboring a p.Asn1080lle variant on exon 19 of TRIO Gene (Pengelly RJ et al., J Med Genet 2016;53:735–742). Design/Methods: Five family members of Caribbean descent were recruited through Mayo Clinic IRB approved ataxia research protocol; mother and all three children were found to be affected with severe young onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization (aCGH), mitochondrial DNA analysis (MtDNA), and whole exome sequencing (WES) were performed on three of the family members (mother and two daughters). Results: Maternal grandmother was unaffected. Mother and three children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Mother’s age of onset was at 17 years and age of onset in the children varied from 3 to 9 years of age. Average current disease duration is 21 years. WES showed a variant p.A1214v in exon 22 of the TRIO Gene in all three family members. aCGH and MtDNA were normal. Conclusions: TRIO p.A1214v variant is associated with cerebellar ataxia in our family, it was present in all affected family members and absent in unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on two affected Generations). It is warranted to screen more familial early onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel SCA subtype. Disclosure: Dr. Hanna AL-Shaikh has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Matthew has nothing to disclose. Dr. Atwal has nothing to disclose. Dr. Uitti has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
Ryan J Uitti - One of the best experts on this subject based on the ideXlab platform.
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trio Gene Segregation in a family with cerebellar ataxia p1 063
Neurology, 2018Co-Authors: Rana Hanna Alshaikh, Audrey Strongosky, Mavis Matthew, Ryan J Uitti, Paldeep S Atwal, Zbigniew K WszolekAbstract:Objective: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Background: Inherited ataxias are heteroGeneous group of conditions, with 43 different SCA subtype discovered thus far. TRIO Gene mutations have been previously correlated with developmental delay and autism. Gait ataxia was only detected in a single familial case harboring a p.Asn1080lle variant on exon 19 of TRIO Gene (Pengelly RJ et al., J Med Genet 2016;53:735–742). Design/Methods: Five family members of Caribbean descent were recruited through Mayo Clinic IRB approved ataxia research protocol; mother and all three children were found to be affected with severe young onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization (aCGH), mitochondrial DNA analysis (MtDNA), and whole exome sequencing (WES) were performed on three of the family members (mother and two daughters). Results: Maternal grandmother was unaffected. Mother and three children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Mother’s age of onset was at 17 years and age of onset in the children varied from 3 to 9 years of age. Average current disease duration is 21 years. WES showed a variant p.A1214v in exon 22 of the TRIO Gene in all three family members. aCGH and MtDNA were normal. Conclusions: TRIO p.A1214v variant is associated with cerebellar ataxia in our family, it was present in all affected family members and absent in unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on two affected Generations). It is warranted to screen more familial early onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel SCA subtype. Disclosure: Dr. Hanna AL-Shaikh has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Matthew has nothing to disclose. Dr. Atwal has nothing to disclose. Dr. Uitti has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
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trio Gene Segregation in a family with cerebellar ataxia
Neurologia I Neurochirurgia Polska, 2018Co-Authors: Rana Hanna Al Shaikh, Thomas R Caulfield, Audrey Strongosky, Mavis Matthew, Karen Jansenwest, Mercedes Prudencio, John D Fryer, Leonard Petrucelli, Ryan J Uitti, Zbigniew K WszolekAbstract:Aim of the study: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Materials and methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters). Results: While the maternal grandmother, great uncle and great aunt were unaffected, the mother and 3 children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Age of onset ranged between 3 and 17 years, with average current disease duration of 21 years. Whole-exome sequencing showed a variant p.A1214V in exon 22 of the TRIO Gene in 3 of the family members. Array comparative genomic hybridization and mitochondrial DNA analysis were normal. The same variant was later discovered in all but one family member. Conclusions and clinical implications: The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on 2 affected Generations). It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel spinocerebellar ataxia subtype.
Mavis Matthew - One of the best experts on this subject based on the ideXlab platform.
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trio Gene Segregation in a family with cerebellar ataxia p1 063
Neurology, 2018Co-Authors: Rana Hanna Alshaikh, Audrey Strongosky, Mavis Matthew, Ryan J Uitti, Paldeep S Atwal, Zbigniew K WszolekAbstract:Objective: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Background: Inherited ataxias are heteroGeneous group of conditions, with 43 different SCA subtype discovered thus far. TRIO Gene mutations have been previously correlated with developmental delay and autism. Gait ataxia was only detected in a single familial case harboring a p.Asn1080lle variant on exon 19 of TRIO Gene (Pengelly RJ et al., J Med Genet 2016;53:735–742). Design/Methods: Five family members of Caribbean descent were recruited through Mayo Clinic IRB approved ataxia research protocol; mother and all three children were found to be affected with severe young onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization (aCGH), mitochondrial DNA analysis (MtDNA), and whole exome sequencing (WES) were performed on three of the family members (mother and two daughters). Results: Maternal grandmother was unaffected. Mother and three children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Mother’s age of onset was at 17 years and age of onset in the children varied from 3 to 9 years of age. Average current disease duration is 21 years. WES showed a variant p.A1214v in exon 22 of the TRIO Gene in all three family members. aCGH and MtDNA were normal. Conclusions: TRIO p.A1214v variant is associated with cerebellar ataxia in our family, it was present in all affected family members and absent in unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on two affected Generations). It is warranted to screen more familial early onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel SCA subtype. Disclosure: Dr. Hanna AL-Shaikh has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Matthew has nothing to disclose. Dr. Atwal has nothing to disclose. Dr. Uitti has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
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trio Gene Segregation in a family with cerebellar ataxia
Neurologia I Neurochirurgia Polska, 2018Co-Authors: Rana Hanna Al Shaikh, Thomas R Caulfield, Audrey Strongosky, Mavis Matthew, Karen Jansenwest, Mercedes Prudencio, John D Fryer, Leonard Petrucelli, Ryan J Uitti, Zbigniew K WszolekAbstract:Aim of the study: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Materials and methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters). Results: While the maternal grandmother, great uncle and great aunt were unaffected, the mother and 3 children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Age of onset ranged between 3 and 17 years, with average current disease duration of 21 years. Whole-exome sequencing showed a variant p.A1214V in exon 22 of the TRIO Gene in 3 of the family members. Array comparative genomic hybridization and mitochondrial DNA analysis were normal. The same variant was later discovered in all but one family member. Conclusions and clinical implications: The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on 2 affected Generations). It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel spinocerebellar ataxia subtype.
Audrey Strongosky - One of the best experts on this subject based on the ideXlab platform.
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trio Gene Segregation in a family with cerebellar ataxia p1 063
Neurology, 2018Co-Authors: Rana Hanna Alshaikh, Audrey Strongosky, Mavis Matthew, Ryan J Uitti, Paldeep S Atwal, Zbigniew K WszolekAbstract:Objective: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Background: Inherited ataxias are heteroGeneous group of conditions, with 43 different SCA subtype discovered thus far. TRIO Gene mutations have been previously correlated with developmental delay and autism. Gait ataxia was only detected in a single familial case harboring a p.Asn1080lle variant on exon 19 of TRIO Gene (Pengelly RJ et al., J Med Genet 2016;53:735–742). Design/Methods: Five family members of Caribbean descent were recruited through Mayo Clinic IRB approved ataxia research protocol; mother and all three children were found to be affected with severe young onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization (aCGH), mitochondrial DNA analysis (MtDNA), and whole exome sequencing (WES) were performed on three of the family members (mother and two daughters). Results: Maternal grandmother was unaffected. Mother and three children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Mother’s age of onset was at 17 years and age of onset in the children varied from 3 to 9 years of age. Average current disease duration is 21 years. WES showed a variant p.A1214v in exon 22 of the TRIO Gene in all three family members. aCGH and MtDNA were normal. Conclusions: TRIO p.A1214v variant is associated with cerebellar ataxia in our family, it was present in all affected family members and absent in unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on two affected Generations). It is warranted to screen more familial early onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel SCA subtype. Disclosure: Dr. Hanna AL-Shaikh has nothing to disclose. Dr. Strongosky has nothing to disclose. Dr. Matthew has nothing to disclose. Dr. Atwal has nothing to disclose. Dr. Uitti has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
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trio Gene Segregation in a family with cerebellar ataxia
Neurologia I Neurochirurgia Polska, 2018Co-Authors: Rana Hanna Al Shaikh, Thomas R Caulfield, Audrey Strongosky, Mavis Matthew, Karen Jansenwest, Mercedes Prudencio, John D Fryer, Leonard Petrucelli, Ryan J Uitti, Zbigniew K WszolekAbstract:Aim of the study: To report a family with a novel TRIO Gene mutation associated with phenotype of cerebellar ataxia. Materials and methods: Seven family members of Caribbean descent were recruited through our ataxia research protocol; of the family members, the mother and all 3 children were found to be affected with severe young-onset and rapidly progressive truncal and appendicular ataxia leading to early disability. Array comparative genomic hybridization, mitochondrial DNA analysis, and whole-exome sequencing were performed on 3 of the family members (mother and 2 daughters). Results: While the maternal grandmother, great uncle and great aunt were unaffected, the mother and 3 children displayed cognitive dysfunction, severe ataxia, spasticity, and speech disturbances. Age of onset ranged between 3 and 17 years, with average current disease duration of 21 years. Whole-exome sequencing showed a variant p.A1214V in exon 22 of the TRIO Gene in 3 of the family members. Array comparative genomic hybridization and mitochondrial DNA analysis were normal. The same variant was later discovered in all but one family member. Conclusions and clinical implications: The TRIO p.A1214V variant is associated with cerebellar ataxia in the studied family; it was present in all affected and unaffected family members. Phenotype is severe and broad. Anticipation seems to be present (based on 2 affected Generations). It is warranted to screen additional familial early-onset and rapidly progressive ataxia cases for this genotype. TRIO Gene mutations may well represent a novel spinocerebellar ataxia subtype.