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 ?
Steminent's Stemchymal allogeneic cell therapy R&D program has generated a portfolio of clinical stage therapeutic candidates for multiple diseases including: spinocerebellar ataxia (PolyQ SCA), osteoarthritis of the knee, and acute liver failure.
Oliveira, "Physical therapy approach to spinocerebellar ataxia: a systematic review," Fisioter e Pesqui, vol.
A randomized trial of varenicline (chantix) for the treatment of spinocerebellar ataxia type 3.
Infantile onset spinocerebellar ataxia with sensory neuro pathy: a new inherited disease.
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).
Spinocerebellar ataxia (SCA) is an autosomal dominant disease characterized by progressive neurodegeneration.
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients.
The report provides comprehensive information on the therapeutics under development for Spinocerebellar Ataxia (SCA), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
The MJD, also known as spinocerebellar ataxia type 3, is caused by CSG expansions which codify a repetition of the amino acid glutamine in its correspondent protein [19].
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome Ip32.
Rhys, eight, of Guisborough, was diagnosed in December with Spinocerebellar Ataxia Type 7 - a genetic defect which degenerates the brain's coordination centre, the cerebellum.
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.

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