spinocerebellar ataxia


Also found in: Acronyms, Wikipedia.

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 ?
1] Eng-King Tan, MD; Tetsuo Ashizawa, MD,2001; Genetic testing in spinocerebellar ataxias, defining a clinical role Arch Neurol;58: 191-195
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia.
A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees.
Orn of the University of Minnesota in Minneapolis have seen nuclear protein deposits in mice with a condition similar to the human disease spinocerebellar ataxia type 1.
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
The 10-year-old has the genetic degenerative condition spinocerebellar ataxia.
Louise Nugent used her experience of caring for husband Scott, who suffers from the rare degenerative brain disease spinocerebellar ataxia, to head up At Your Side with friend and business partner Lisa Bryden.
Zoghbi, a pediatric neurologist at Baylor College of Medicine in Houston, spoke to a local family marked for seven generations by the inherited disease spinocerebellar ataxia type 1 (SCA1), no one recalled having heard anything dramatic about the long-dead man to whom she had traced the first obvious sign of the illness.
Her contributions have broken new ground, beginning in 1993, when she and her collaborator, Harry Orr, led the team that found the gene associated with spinocerebellar ataxia 1, a devastating adult-onset neurological disorder.
Scott's body is still being ravaged by the rare neurological condition spinocerebellar ataxia, but thanks to controversial stem cell treatment he put himself through in China in the summer, he believes he has now been granted his wish to see George grow up.
After decades of searching, two geneticists and their colleagues have demonstrated that chromosome 6 in people with spinocerebellar ataxia 1 contains a short piece of DNA that repeats 40 to 80 times, two to four times more than it should.
Given such fundamental actions in the healthy nervous system, it is no surprise that microRNAs are also implicated in disease processes: brain tumours (Kosik); neurodegenerative diseases such as Alzheimer's (Sebastien Hebert, Centre de Recherche du CHUQ (CHUL), Quebec, Canada and Katholieke Universiteit Leuven, Belgium), Parkinson's (Asa Abeliovich, Columbia University, New York, USA), Huntington's and spinocerebellar ataxia (Nancy Bonini, Howard Hughes Medical Institute, Philadelphia, USA); as well as in psychiatric conditions such as schizophrenia (Maria Karayiorgou; Columbia University, New York, USA).

Full browser ?