Results 11 to 20 of about 6,068 (173)
Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias [PDF]
Cell Death and DiseasePolyglutamine spinocerebellar ataxias (PolyQ SCAs) comprise a group of six inherited rare neurodegenerative diseases. They are caused by abnormal mutation of a CAG tract in six otherwise unrelated genes, leading to a complex cascade of molecular events ...
Clévio Nóbrega +13 more
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Roles of Post-translational Modifications in Spinocerebellar Ataxias
Frontiers in Cellular Neuroscience, 2018 Post-translational modifications (PTMs), including phosphorylation, acetylation, ubiquitination, SUMOylation, etc., of proteins can modulate protein properties such as intracellular distribution, activity, stability, aggregation, and interactions ...
Linlin Wan, Beisha Tang
exaly +3 more sources
Muscle cramps profile among spinocerebellar ataxias [PDF]
Annals of Indian Academy of Neurology, 2022 Gustavo Leite Franklin +6 more
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Nature Reviews Disease Primers, 2019 The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease
Klockgether, Thomas +2 more
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A Review of Spinocerebellar Ataxias in Taiwan
Acta Neurologica TaiwanicaSpinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by inherited progressive cerebellar ataxia with or without other associated features. The clinical presentations of these affected SCA patients are very heterogeneous.
Chia-Ju Lee +2 more
doaj +3 more sources
Ophthalmology, 2017 Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types.
Scott Wentz, Denis Jusufbegovic
openaire +4 more sources
Biomedicines, 2021 Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene.
Craig S. McIntosh +3 more
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Hereditary ataxias: spinocerebellar ataxia type 2 (clinical case)
Актуальные проблемы теоретической и клинической медицины, 2022 This article will present a clinical case of a patient with hereditary spinocerebellar ataxia type 2 (SCA-type 2). Spinocerebellar ataxia is a group of hereditary progressive cerebellar ataxias, numbering over 40 subspecies, manifested in the form of ...
I. Em
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Rehabilitation in patients with cerebellar ataxias
Arquivos de Neuro-Psiquiatria, 2022 Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA).
Hsin Fen Chien +7 more
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