Results 21 to 30 of about 32,086 (242)

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy

Majalah Kedokteran Bandung, 2022
Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves.
Siti Aminah Sobana, Iin Pusparini, Nushrotul Lailiyya, Ahmad Rizal Ganiem, Uni Gamayani, Yusuf Wibisono, Fathul Huda, Yunia Sribudiani, Tri Hanggono Achmad   +8 more
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Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family

The Pan African Medical Journal, 2021
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy.
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-vuillaume, Kenza Dafir, Nisrine Aboussair   +7 more
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Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene

Stem Cell Research, 2023
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 gene. In this study, we generated an induced pluripotent stem cell line (iPSC) by using non-integrating Sendai virus (SeV)
Yinshi Jin, Guangxian Nan
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Gene, Stem Cell, and Alternative Therapies for SCA 1

Frontiers in Molecular Neuroscience, 2016
Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear ...
Jacob Lewis Wagner, Deirdre Margaret O'Connor, Anthony Donsante, Nicholaus M Boulis   +3 more
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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Molecular Genetics and Metabolism Reports, 2018
Primary coenzyme Q10 deficiency-7 is caused by homozygous or compound heterozygous mutations in the COQ4 gene. Until now 12 patients have been reported, most presenting with a lethal infantile phenotype with encephalopathy, epilepsy and cardiomyopathy ...
Annet M. Bosch, Erik-Jan Kamsteeg, Richard J. Rodenburg, Arend W. van Deutekom, Dennis R. Buis, Marc Engelen, Jan-Maarten Cobben   +6 more
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Novel mutation in exon11 of PRKCG (SCA14): A case report

Frontiers in Genetics, 2023
Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun   +4 more
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Parkinsonism in Spinocerebellar Ataxia [PDF]

BioMed Research International, 2015
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung, Kim, Han-Joon, Jeon, Beom S.   +2 more
openaire   +2 more sources

Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy

Journal of Pharmacological Sciences, 2009
Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe, Tomoharu Nakano, Motoko Honda, Hideki Ono   +3 more
doaj   +1 more source

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
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