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The pathogenesis of spinocerebellar ataxia
The Cerebellum, 2005Six forms of spinocerebellar ataxia (SCA) are caused by pathological cytosine-adenine-guanine (CAG) trinucleotide repeat expansions in the coding region of the mutated genes. The translated proteins contain abnormally long polyglutamine stretches, and SCA-1, SCA-2, SCA-3/Machado-Joseph disease (MJD), SCA-6, SCA-7, and SCA-17 are "polyglutamine diseases"
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Brain pathology of spinocerebellar ataxias
Acta Neuropathologica, 2012The 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
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Movement disorders in spinocerebellar ataxias
Movement Disorders, 2011AbstractAutosomal dominant spinocerebellar ataxias (SCAs) can present with a large variety of noncerebellar symptoms, including movement disorders. In fact, movement disorders are frequent in many of the various SCA subtypes, and they can be the presenting, dominant, or even isolated disease feature. When combined with cerebellar ataxia, the occurrence
Gaalen, J. van +2 more
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Treatment of spinocerebellar ataxia with buspirone
Journal of the Neurological Sciences, 2007Preliminary data suggest potential benefit of 5-HT receptor agonists in the treatment of ataxias. We studied the effects of buspirone in a cohort of twenty patients with spinocerebellar ataxia (SCA). Twenty patients were treated in this double-blind, placebo controlled, cross-over trial with either buspirone HCl 30 mg twice daily or placebo for 3 ...
Mitra, Assadi +5 more
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2012
In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). The mutation was mapped to the centromeric region of chromosome 11, and the disorder designated SCA5 (Ranum et al., 1994). Using a multifaceted mapping approach, Ikeda et al.
Katherine A, Dick +3 more
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In 1994, Ranum and colleagues identified a ten-generation American kindred with a relatively mild autosomal dominant form of spinocerebellar ataxia (Ranum et al., 1994). The mutation was mapped to the centromeric region of chromosome 11, and the disorder designated SCA5 (Ranum et al., 1994). Using a multifaceted mapping approach, Ikeda et al.
Katherine A, Dick +3 more
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2006
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the human alpha1A-calcium channel gene. In this section, recent advances regarding pathogenic mechanism underlying in SCA6 is presented.
K, Ishikawa, H, Mizusawa
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Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the human alpha1A-calcium channel gene. In this section, recent advances regarding pathogenic mechanism underlying in SCA6 is presented.
K, Ishikawa, H, Mizusawa
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2012
Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. SCA7 represents one of the polyglutamine expansion diseases with increase of CAG repeats. The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18.
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Spinocerebellar ataxia type 7 (SCA7) is associated with progressive blindness, dominant transmission, and marked anticipation. SCA7 represents one of the polyglutamine expansion diseases with increase of CAG repeats. The gene maps to chromosome 3p12-p21.1. Normal values of CAG repeats range from 4 to 18.
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Current and emerging treatment modalities for spinocerebellar ataxias
Expert Review of Neurotherapeutics, 2022Sheng-Han Kuo
exaly