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Neuroradiological Findings in the Spinocerebellar Ataxias
Tremor and Other Hyperkinetic Movements, 2019 Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia.
Alex Tiburtino Meira +6 more
doaj +2 more sources
Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances [PDF]
Frontiers in NeuroscienceSpinocerebellar ataxia is a phenotypically and genetically heterogeneous group of autosomal dominant-inherited degenerative disorders. The gene mutation spectrum includes dynamic expansions, point mutations, duplications, insertions, and deletions of ...
Zi-Ting Cui +8 more
doaj +2 more sources
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
doaj +2 more sources
Ophthalmologic features of the common spinocerebellar ataxias [PDF]
, 2010 Purpose of review: The spinocerebellar ataxias are a phenotypically and genetically diverse group of autosomal dominant disorders that cause pathological degeneration in the cerebellum, brainstem, and retina, resulting in a wide variety of ophthalmologic
Jorge C. Kattah (7929737) +2 more
core +12 more sources
MR Imaging in Spinocerebellar Ataxias: A Systematic Review
American Journal of Neuroradiology, 2016 BACKGROUND AND PURPOSE: Polyglutamine expansion spinocerebellar ataxias are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment.
A. Klaes +6 more
semanticscholar +2 more sources
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 +14 more
doaj +2 more sources
Nonmotor symptoms in spinocerebellar ataxias (SCAs) [PDF]
Cerebellum & Ataxias, 2019 Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms.
A. Moro +5 more
semanticscholar +2 more sources
Brain pathology of spinocerebellar ataxias
Acta Neuropathologica, 2012 The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The current classification of this disease group is based on the underlying genetic defects and their typical disease courses.
Kay, Seidel +5 more
openaire +3 more sources
Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
Tremor and Other Hyperkinetic Movements, 2017 Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have different ...
Shi-Rui Gan +19 more
doaj +2 more sources