Results 1 to 10 of about 15,463 (269)
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
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Spinocerebellar ataxias Ataxias espinocerebelares [PDF]
Arquivos de Neuro-Psiquiatria, 2009 Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
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Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update [PDF]
Neural Regeneration Research, 2023 Spinocerebellar ataxias are heritable neurodegenerative diseases caused by a cytosine-adenine-guanine expansion, which encodes a long glutamine tract (polyglutamine) in the respective wild-type protein causing misfolding and protein aggregation. Clinical
Joana Sofia Correia +3 more
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Functionality and disease severity in spinocerebellar ataxias [PDF]
Arquivos de Neuro-Psiquiatria, 2022 Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression.
Geanison Castro da CRUZ +9 more
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Cognition in trinucleotide repeat spinocerebellar ataxias: A review [PDF]
Annals of Indian Academy of Neurology, 2022 Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron ...
Ayush Agarwal +4 more
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Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias [PDF]
Frontiers in Neuroscience, 2020 The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that share convergent disease features. A common symptom of these diseases is development of ataxia, involving impaired balance and motor coordination, usually ...
Katherine J. Robinson +2 more
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On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients [PDF]
Brain Sciences(1) Background: Spinocerebellar ataxias (SCA) is a term that refers to a group of hereditary ataxias, which are neurological diseases characterized by degeneration of the cells that constitute the cerebellum.
José Alberto Álvarez-Cuesta +6 more
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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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Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg +3 more
core +3 more sources