Results 41 to 50 of about 7,196 (214)
Parkinsonism in Spinocerebellar Ataxia [PDF]
BioMed Research International, 2015 Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung +2 more
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Spinocerebellar ataxia: an update [PDF]
Journal of Neurology, 2018 Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include
Sullivan, R +3 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.
Georg Auburger +9 more
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Phenotypic and genetic aspects of hereditary ataxia in dogs
Journal of Veterinary Internal Medicine, 2023 Hereditary ataxias are a large group of neurodegenerative diseases that have cerebellar or spinocerebellar dysfunction as core feature, occurring as an isolated sign or as part of a syndrome.
Kimberley Stee +6 more
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Hereditary Cerebellar Ataxias: A Korean Perspective [PDF]
Journal of Movement Disorders, 2015 Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements.
Ji Sun Kim, Jin Whan Cho
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Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias. [PDF]
, 2020 Spinocerebellar ataxias (SCAs) affect the cerebellum and its afferent and efferent systems that degenerate during disease progression. In the cerebellum, Purkinje cells (PCs) are the most vulnerable and their prominent loss in the late phase of the ...
Saxena, Smita +2 more
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The Spinocerebellar Ataxias [PDF]
Journal of Neuro-Ophthalmology, 2009 Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
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, 2012 The purpose of this book has been to depict as many biochemical, genetic and molecular advances as possible, in the vast field of the spinocerebellar ...
Frank Gaillard +2 more
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MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
Case Reports in Neurology, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii +3 more
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An understanding of spinocerebellar ataxia
Indian Journal of Medical Research, 2015 Advances in molecular genetics techniques have given several approaches to diagnose most common complex genetic disorders and also these advances have helped to diagnose the rare complex disorders. Autosomal dominant cerebellar ataxias are a group of hereditary neurodegenerative disorders and are characterized by a generalized incoordination of gait ...
Ramachandra, N. B., Kusuma, L.
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