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Titolo:
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia
Autore:
Schelhaas, HJ; Ippe, PF; Hageman, G; Sinke, RJ; van der Laan, EN; Beemer, FA;
Indirizzi:
Med Spectrum Twente, Dept Neurol, Enschede, Netherlands Med Spectrum Twente Enschede Netherlands Neurol, Enschede, Netherlands Med Spectrum Twente, Dept Med Psychol, Enschede, Netherlands Med Spectrum Twente Enschede Netherlands Psychol, Enschede, Netherlands Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht Utrecht Netherlands ed Genet, Utrecht, Netherlands
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 2, volume: 248, anno: 2001,
pagine: 113 - 120
SICI:
0340-5354(200102)248:2<113:CAGAOA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
MACHADO-JOSEPH DISEASE; CARD SORTING TEST; SPINOCEREBELLAR ATAXIA; CALCIUM-CHANNEL; COGNITIVE DEFICITS; ITALIAN FAMILIES; EXPANSIONS; FEATURES; REPEAT; TYPE-2;
Keywords:
spinocerebellar ataxia; myoclonus; cognitive impairment; Wisconsin Card Sorting Test;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Hageman, G Med Spectrum Twente, Dept Neurol, Enschede, Netherlands Med Spectrum Twente Enschede Netherlands schede, Netherlands
Citazione:
H.J. Schelhaas et al., "Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia", J NEUROL, 248(2), 2001, pp. 113-120

Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of neurodegenerative disorders characterised by progressive cerebellar dysfunction in combination with a variety of other associative features. Since 1993 ADCAs have been increasingly characterised in terms of their geneticmutation and are referred to as spinocerebellar ataxias (SCAs). Some families with ADCA cannot be assigned to any of the known genotypes, which implies further genetic heterogeneity. We investigated the clinical symptoms of.12 patients of a four-generation family with ADCA and carried out mutationand genetic linkage studies. The family showed a relatively mild cerebellar ataxic syndrome with cognitive impairment, poor performance on the Wisconsin Card Sorting Test, myoclonus, and a postural irregular tremor of slow frequency. Age at disease onset and severity of cerebellar signs and symptoms suggest anticipation. The genetic loci implicated in ADCA were excluded by mutation analyses (SCA 1, 2, 3, 6, 7, 8, 12) and genetic linkage (SCA 4, 5, 6, 10, 11). We conclude that this family represents a clinically and genetically distinct form of SCA.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 07:54:44