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Titolo:
Juvenile onset Huntington's disease - Clinical and research perspectives
Autore:
Nance, MA; Myers, RH;
Indirizzi:
Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA Boston Univ Boston MA USA 02118 ch Med, Dept Neurol, Boston, MA 02118 USA Pk Nicollet Clin, Dept Neurosci, St Louis Pk, MN USA Pk Nicollet Clin St Louis Pk MN USA , Dept Neurosci, St Louis Pk, MN USA
Titolo Testata:
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
fascicolo: 3, volume: 7, anno: 2001,
pagine: 153 - 157
SICI:
1080-4013(2001)7:3<153:JOHD-C>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURONAL INTRANUCLEAR INCLUSIONS; EXPANDED CAG REPEAT; TRINUCLEOTIDE REPEAT; TRANSGENIC MICE; (CAG)(N) REPEAT; LENGTH; GENE; MUTATION; INSTABILITY; PARENT;
Keywords:
Huntington's disease; juvenile onset; neurodegeneration; trinucleotide repeat; genetics;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Myers, RH Boston Univ, Sch Med, Dept Neurol, B-603,715 Albany St, Boston, MA 02118 USA Boston Univ B-603,715 Albany St Boston MA USA 02118 MA 02118 USA
Citazione:
M.A. Nance e R.H. Myers, "Juvenile onset Huntington's disease - Clinical and research perspectives", MENT RET D, 7(3), 2001, pp. 153-157

Abstract

Huntington's disease (HD) is an inherited neurodegenerative disorder. The mutation which causes the disease is an expansion in the number of repetitions of three nucleotides, C, A, and G in exon 1 of the huntingtin gene. Thegene normally has 15 to 30 repeats and an expansion to 40 or more is associated with HD. HD usually has a mid-life onset, but a juvenile form, defined by onset of symptoms before the age of 21 years, is present in about 7% of HD cases. Juvenile HD is characterized by (1) transmission from an HD affected father, (2) an unusually large repeat size, usually of 60 or more units, and (3) unique clinical features, including rigidity and seizure disorder. Although juvenile onset is associated with a more severe neuropathological involvement, the neuropathological characteristics of juvenile HD are similar to those seen in the adult form in that the striatum bears the bruntof the illness. Clumps of protein, termed inclusion bodies, which stain positive for huntingtin and ubiquitin, are found primarily in the nucleus butalso in the cytoplasm and axons in HD neurons. Research suggests that these inclusion bodies sequester a deleterious protein fragment and prolong cell life during the degenerative process of the disease. (C) 2001 Wiley-Liss,Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 03:46:04