spinocerebellar ataxia

(redirected from Spinocerebellar ataxias)

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 ?
Verstappen et al., "Falls in spinocerebellar ataxias: Results of the EuroSCA fall study," The Cerebellum, vol.
Secondary RLS is associated with various pathological conditions such as iron deficiency, peripheral neuropathy, Parkinson's disease, essential tremor, renal failure, spinocerebellar ataxias, myelopathies, and myasthenia gravis (3-9).
Brice et al., "Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias," Cerebellum, vol.
The studies about dysphagia in spinocerebellar ataxias are still rare and, although dysphagia in MJD is a common complaint and symptom, it is not a very frequent subject approached by literature.
Spinocerebellar ataxias (SCA), inherited as autosomal dominant (AD), represent a neurodegenerative disease group that has a genetically and clinically heterogeneous structure.
GlobalData's clinical trial report, "Spinocerebellar Ataxias Global Clinical Trials Review, H2, 2015" provides an overview of Spinocerebellar Ataxias clinical trials scenario.
[USPRwire, Tue Aug 11 2015] Global Markets Direct's, 'Spinocerebellar Ataxias - Pipeline Review, H1 2015', provides an overview of the Spinocerebellar Ataxias's therapeutic pipeline.
Clinical characteristics, radiological features and gene mutation in 10 Chinese families with spinocerebellar ataxias. Chin Med J 2015;128:1714-23.
Although only approximately 20 of these conditions have been identified, they include some of the commoner genetic conditions, such as fragile X mental retardation syndrome, myotonic dystrophy, Huntington disease (HD) and a number of the spinocerebellar ataxias. All these conditions are characterised by similar mutations--an area within or close to the gene where there is a repetitive DNA sequence, usually three base pairs.
It is associated with several pathological or physiological conditions such as iron deficiency, diabetes mellitus, peripheral neuropathies, Parkinson's disease, essential tremor, spinocerebellar ataxias, myelopathies, renal failure, rheumatoid arthritis, and pregnancy [4-6].
Nine of the consortia are related to neurologic disease, including those focusing on Angelman, Rett, and Prader-Willi syndromes; autonomic rare diseases; neurologic channelopathies; spinocerebellar ataxias; dystonias; lysosomal diseases; inherited neuropathies; brain vascular malformations; and mitochondrial diseases.

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