Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF THE HUNTINGTONS-DISEASE MUTATION
Autore:
MACMILLAN JC; SNELL RG; TYLER A; HOULIHAN GD; FENTON I; CHEADLE JP; LAZAROU LP; SHAW DJ; HARPER PS;
Indirizzi:
UNIV WALES COLL MED,INST MED GENET,HEATH PK CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL MED,INST MED GENET,HEATH PK CARDIFF CF4 4XN S GLAM WALES
Titolo Testata:
Lancet
fascicolo: 8877, volume: 342, anno: 1993,
pagine: 954 - 958
SICI:
0140-6736(1993)342:8877<954:MAACCO>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOTONIC-DYSTROPHY; ANTICIPATION; REPEAT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
J.C. Macmillan et al., "MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF THE HUNTINGTONS-DISEASE MUTATION", Lancet, 342(8877), 1993, pp. 954-958

Abstract

The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene (IT15) on chromosome 4. We have investigated the relation of the phenotype of HD to this molecular defect and assessed the feasibility of HD mutation analysis in diagnosis and prediction. Analysis of DNA from 449 HD patients (351 familial and 98 apparently isolatedcases) revealed the mutation in more than 95% of patients from both groups. No molecular difference was found between patients presenting with psychiatric symptoms and those in whom chorea or other motor defects were the principal features; additionally, there was a wide range of age at onset for any specific repeat number, though the small group with juvenile onset and presenting with rigidity showed the largest expansions. The findings suggest that molecular analysis will be an accurate and specific diagnostic test for HD and valuable in presymptomatic detection in individuals at risk. However, such testing will requireconsiderable caution to avoid serious difficulties; the well-established guidelines developed for the use of linked markers in relation to the prediction of HD should continue to be followed, though they will require reassessment in relation to use in diagnosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:21:42