Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.

Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Research Abstract Details 

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Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Abstract Text:

Dobrila D Rudnicki,Russell L Margolis,

Repeat-expansion mutations cause 13 autosomal dominant neurodegenerative disorders falling into three groups. Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and spinocerebellar ataxias (SCAs) types 1, 2, 3, 7 and 17 are each caused by a CAG repeat expansion that encodes polyglutamine. Convergent lines of evidence demonstrate that neurodegeneration in these diseases is a consequence of the neurotoxic effects of abnormally long stretches of glutamines. How polyglutamine induces neurodegeneration, and why neurodegeneration occurs in only select neuronal populations, remains a matter of intense investigation. SCA6 is caused by a CAG repeat expansion in CACNA1A, a gene that encodes a subunit of the P/Q-type calcium channel. The threshold length at which the repeat causes disease is much shorter than in the other polyglutamine diseases, and neurodegeneration may arise from expansion-induced change of function in the calcium channel. Huntington's disease-like 2 (HDL2) and SCAs 8, 10 and 12 are rare disorders in which the repeats (CAG, CTG or ATTCT) are not in protein-coding regions. Investigation into these diseases is still at an early stage, but it is now reasonable to hypothesise that the net effect of each expansion is to alter gene expression. The different pathogenic mechanisms in these three groups of diseases have important implications for the development of rational therapeutics.

Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Publishing Authors By Initials

DD Rudnicki,RL Margolis,

For similar nervous system diseases: neurodegenerative diseases research abstracts see: nervous system diseases: neurodegenerative diseases research

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Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Journal Published:

PUBLICATION TYPE: Review

Journal: Expert reviews in molecular medicine

VOLUME: 5

Page Numbers: 1-24

Journal Abbreviation:

ISSN: 1462-3994

DAY: 22

MONTH: 08

YEAR: 2003

Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Information

Number of References: 155

LANGUAGE: eng

NlmUniqueID: 100939725

Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Keywords Mesh Terms:

KEYWORDS: Neurodegenerative Diseases

MESH TERMS: genetics

Chemical & Substance for Abstract: Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy. Information

Substance Name: Nerve Tissue Proteins

Registry Number: 0

Grant and Affiliation Information for Repeat expansion and autosomal dominant neurodegenerative disorders: consensus and controversy.

AFFILIATION: Laboratory of Genetic Neurobiology, Department of Psychiatry, Meyer 2-181, 600 N. Wolfe Street, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. drudnic1@jhmi.edu

Country: England

AGENCY: United States NINDS

GRANT: NS38054

ACRONYM: NS

MEDLINETA: Expert Rev Mol Med

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