Results 11 to 20 of about 25,975 (129)

New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]

Journal of Movement Disorders, 2021
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth   +3 more
doaj   +1 more source

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort [PDF]

Journal of Movement Disorders, 2017
Objective Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy ...
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura   +9 more
doaj   +1 more source

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

TGM6 variants in Parkinson's disease: clinical findings and functional evidence [PDF]

Journal of Integrative Neuroscience, 2020
TGM6 encodes transglutaminase 6, which catalyzes the covalent crosslinking of proteins through transamination reactions. Variants in TGM6 have been identified as the cause of spinocerebellar ataxia type 35.
Kui Chen, You Lu, Fang Peng, Hui-Ling Yu, Jia-Yan Wu, Yan Tan, Yan-Xin Zhao
doaj   +1 more source

Clinical and imaging features of a pedigree with spinocerebellar ataxia type 6

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
doi：10.3969/j.issn.1672⁃6731.2021.06 ...
YANG Yun⁃peng, LIU Jia , WANG Lu⁃ning   +2 more
doaj   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source

Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil

Arquivos de Neuro-Psiquiatria, 2008
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13.
Hélio A.G. Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck   +3 more
doaj   +1 more source

Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients

NeuroImage, 2023
Understanding cerebellar alterations due to healthy aging provides a reference point against which pathological findings in late-onset disease, for example spinocerebellar ataxia type 6 (SCA6), can be contrasted. In the present study, we investigated the
Dominik Jäschke, Katharina M. Steiner, Dae-In Chang, Jens Claaßen, Ellen Uslar, Andreas Thieme, Marcus Gerwig, Viktor Pfaffenrot, Thomas Hulst, Alexander Gussew, Stefan Maderwald, Sophia L. Göricke, Martina Minnerop, Mark E. Ladd, Jürgen R. Reichenbach, Dagmar Timmann, Andreas Deistung   +16 more
doaj   +1 more source

Phenotypic features of a Russian family with spinocerebellar ataxia type 6 from Khabarovsk Krai

Анналы клинической и экспериментальной неврологии, 2021
The article presents a familial case of spinocerebellar ataxia type 6, consisting of 7 people across 4 generations from a mixed marriage of Yakut, Even, and Russian ethnicities, living in Khabarovsk Krai.
Tatyana N. Proskokova, Dmitry V. I., Natal’ya B. Serdyuk, Natal’ya Yu. Abramycheva   +3 more
doaj   +1 more source