Results 1 to 10 of about 42,506 (235)
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
exaly +9 more sources
Pediatric Neurology Briefs, 1988 The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
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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
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
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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, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
Alexander K. C. Leung +150 more
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A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
Advanced Biomedical Research, 2023 Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare +2 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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Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia
Journal of Veterinary Internal Medicine, 2023 Background KCNJ10 and CAPN1 variants cause “spinocerebellar” ataxia in dogs, but their association with generalized myokymia and neuromyotonia remains unclear.
An Vanhaesebrouck +10 more
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Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
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Frontiers in Human Neuroscience, 2023 The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen +4 more
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