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Titolo:
TRINUCLEOTIDE REPEAT EXPANSION IN NEUROLOGICAL DISEASE
Autore:
LASPADA AR; PAULSON HL; FISCHBECK KH;
Indirizzi:
UNIV WASHINGTON,MED CTR,DEPT LAB MED,SB-10,1959 NE PACIFIC ST SEATTLEWA 98195 UNIV PENN,SCH MED,DEPT NEUROL PHILADELPHIA PA 19104
Titolo Testata:
Annals of neurology
fascicolo: 6, volume: 36, anno: 1994,
pagine: 814 - 822
SICI:
0364-5134(1994)36:6<814:TREIND>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGILE-X-SYNDROME; BULBAR MUSCULAR-ATROPHY; RECESSIVE BULBOSPINAL NEURONOPATHY; ANDROGEN RECEPTOR GENE; CONGENITAL MYOTONIC-DYSTROPHY; 3' UNTRANSLATED REGION; HUNTINGTONS-DISEASE; SPINOCEREBELLAR ATAXIA; CAG REPEAT; FMR-1 GENE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
109
Recensione:
Indirizzi per estratti:
Citazione:
A.R. Laspada et al., "TRINUCLEOTIDE REPEAT EXPANSION IN NEUROLOGICAL DISEASE", Annals of neurology, 36(6), 1994, pp. 814-822

Abstract

Expansion of trinucleotide repeats is now recognized as a major causeof neurological disease. At least seven disorders result from trinucleotide repeat expansion: X-linked spinal and bulbar muscular atrophy (SBMA), two fragile X syndromes of mental retardation (FRAXA and FRAXE), myotonic dystrophy, Huntington's disease, spinocerebellar ataxia type 1 (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). The expanded trinucleotide repeats are unstable; and the phenomenon of anticipation, i.e., worsening of disease phenotype over successive generations, correlates with increasing expansion size. In this review, we compare the clinical and molecular features of the trinucleotide repeat diseases, which may be classified into two types. Fragile X and myotonic dystrophy are multisystem disorders usually associated with large expansions of untranslated repeats, while the four neurodegenerative disorders, SBMA, Huntington's disease, SCA1, and DRPLA, are caused by smaller expansions of CAG repeats within the protein coding portion of the gene. CAG repeats encode polyglutamine tracts. Polyglutamine tract expansion thus appears to be a common mechanism of inherited neurodegenerative disease. Although polyglutamine tract lengthening presumably hasa toxic gain of function effect in the CAG trinucleotide repeat disorders, the basis of this neuronal toxicity remains unknown.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 05:21:09