spinocerebellar ataxia


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spi·no·cer·e·bel·lar a·tax·i·a

a generic term now increasingly used to describe autosomal dominant-inherited ataxias that have a progressive course. The terminology is regulated by the human genome organization, and each new gene locus, when found, is indicated by "SCA" followed by a number. Currently, at least 23 distinct types have been reported (SCA1-SCA23). All types closely resemble one another clinically and usually cannot be distinguished by phenotype alone. Pathologically, all types are caused by a variable combination of nerve cell loss in the cerebellum, basis pontis, olivary nuclei, substantia nigra anterior horns, and in the posterior thoracic nucleus. Formerly, diseases in this group were usually labeled "Marie ataxia" or "olivopontocerebellar atrophies." SCA3 is now known as Machado-Joseph disease. Many of these disorders are due to expansions of the CAG sequence in various genes on various chromosomes, including chromosome 3p, 6p, 20p, 5q, 6q, 7q, 8q, 11q, 12q, 15q, 19q, and 22q.

spinocerebellar ataxia

A clinically and genetically heterogeneous group of cerebellar disorders, which is characterised by progressive incoordination of gait and often poor co-ordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.

spi·no·cer·e·bel·lar a·tax·i·a

(spī'nō-ser'ĕ-bĕl'lăr ă-tak'sē-ă)
The most common hereditary ataxia, with onset in middle to late childhood, manifested as limb ataxia, nystagmus, kyphoscoliosis, and pes cavus; the major pathologic changes are found in the posterior columns of the spinal cord.

Pagon,

R.A.,
Pagon syndrome - anemia from birth (in males); ataxia evident by age 1 year; clonus and positive Babinski sign. Synonym(s): sideroblastic anemia; spinocerebellar ataxia

spi·no·cer·e·bel·lar a·tax·i·a

(spī'nō-ser'ĕ-bĕl'lăr ă-tak'sē-ă)
Generic term now increasingly used to describe autosomal dominant-inherited ataxias that have a progressive course.
References in periodicals archive ?
A randomized trial of varenicline (chantix) for the treatment of spinocerebellar ataxia type 3.
cDNA cloning, expression profile, and genomic structure of a novel human transcript on chromosome 10q24, and its analyses as a candidate gene for infantile onset spinocerebellar ataxia.
The report provides a snapshot of the global therapeutic landscape of Spinocerebellar Ataxia (SCA)
Guidelines for the pathoanatomical examination of the lower brain stem in ingestive and swallowing disorders and its application to a dysphagic spinocerebellar ataxia type 3 patient.
Studies on the CAG /CTG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han.
may be unaware that they are observing a case of spinocerebellar ataxia.
It's possible that Ataxin-2's function as an activator of protein translation may be central to understanding how, when you mutate the gene and disrupt its function, it may be causing or contributing to diseases such as ALS or spinocerebellar ataxia," Allada said.
Mr Nugent was 24 when he started displaying symptoms of spinocerebellar ataxia.
2003; Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil, Genet.
FRDA = Friedreich ataxia AD SCA = Autosomal dominant spinocerebellar ataxia ICARS = International Cooperative Ataxia Rating Scale ADLS = Activities of Daily Living Scale DELTA - X = Right/left deviation of COP, DELTA - Y = Front/back deviation of COP, TRAJ = Absolute deviation of COP, TTW - Total traveled way during the whole test
A second gene was already known to cause a movement disorder called spinocerebellar ataxia, which destroys nerve cells in the central nervous system.
The third novel SNP resides in the gene that causes spinocerebellar ataxia, a neurodegenerative movement disorder.

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