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Titolo:
A DUTCH FAMILY WITH BENIGN HEREDITARY CHOREA OF EARLY-ONSET - DIFFERENTIATION FROM HUNTINGTONS-DISEASE
Autore:
HAGEMAN G; IPPEL PF; VANHOUT MSE; ROZEBOOM AR;
Indirizzi:
MED SPECTRUM TWENTE,DEPT NEUROL,POB 50000 NL-7500 KA ENSCHEDE NETHERLANDS UNIV UTRECHT HOSP,CLIN GENET CTR UTRECHT NETHERLANDS MED SPECTRUM TWENTE,DEPT CLIN PSYCHOL ENSCHEDE NETHERLANDS MED SPECTRUM TWENTE,DEPT RADIOL ENSCHEDE NETHERLANDS
Titolo Testata:
Clinical neurology and neurosurgery
fascicolo: 2, volume: 98, anno: 1996,
pagine: 165 - 170
SICI:
0303-8467(1996)98:2<165:ADFWBH>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Keywords:
BENIGN HEREDITARY CHOREA; HUNTINGTONS DISEASE; CAG TRINUCLEOTIDE REPEAT; DIFFERENTIAL DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
G. Hageman et al., "A DUTCH FAMILY WITH BENIGN HEREDITARY CHOREA OF EARLY-ONSET - DIFFERENTIATION FROM HUNTINGTONS-DISEASE", Clinical neurology and neurosurgery, 98(2), 1996, pp. 165-170

Abstract

A large Dutch family of 88 members, running through five generations,is described with benign hereditary chorea of early onset. The clinical presentation was heterogeneous. The chorea manifested in late infancy or childhood, interfered with writing, was non-disabling, stable oreven improved in adulthood in most cases, but was slowly progressive with gait impairment in some. There was mild dysarthria and normal intelligence. EEG, brain CT-scanning and MRI were normal. Huntington's disease was excluded by analysis of the I T 15 gene, which showed a normal number of the CAG trinucleotide repeats in two patients. It is concluded that benign hereditary chorea of early onset is an entity different from Huntington's disease and that in cases of early onset chorea the diagnostic accuracy is markedly improved by DNA testing.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 12:39:13