Results 1 to 10 of about 6,068 (173)
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 ...
Jia-Jia Li
exaly +4 more sources
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
doaj +5 more sources
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
doaj +2 more sources
Epidemiology of Spinocerebellar Ataxias in Europe. [PDF]
Cerebellum, 2023 AbstractSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing.
De Mattei F +6 more
europepmc +4 more sources
Biomarkers in Spinocerebellar Ataxias. [PDF]
CerebellumAbstract Biomarkers are defined as measures that indicate biological processes and responses to interventions. Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited, progressive diseases. As targeted therapies for SCAs are being developed, there is a great need for biomarkers for use in clinical trials. Molecular genetic tests are
Klockgether T, Grobe-Einsler M, Faber J.
europepmc +4 more sources
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.
Tetsuo Ashizawa, Walter Arruda
exaly +3 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
Cognitive dysfunction in spinocerebellar ataxias [PDF]
Dementia & Neuropsychologia, 2009 Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features ...
Helio Afonso Ghizoni Teive +1 more
doaj +4 more sources