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Titolo:
Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias
Autore:
Schelhaas, HJ; Ippel, PF; Beemer, FA; Hageman, G;
Indirizzi:
Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht Netherlands , Dept Med Genet, Utrecht, Netherlands
Titolo Testata:
EUROPEAN JOURNAL OF NEUROLOGY
fascicolo: 3, volume: 7, anno: 2000,
pagine: 309 - 314
SICI:
1351-5101(200005)7:3<309:SADITP>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOMINANT CEREBELLAR-ATAXIA; MACHADO-JOSEPH-DISEASE; INTRANUCLEAR INCLUSIONS; CAG REPEATS; EXPANSION; GENE; PROTEIN; CLASSIFICATION; PARAPLEGIAS; PEDIGREES;
Keywords:
ADCA; CAG-repeat; polyglutamine-proteins; SCA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Schelhaas, HJ Univ Med Ctr, Med Spectrum Twente, Dept Neurol, Utrecht, Netherlands Univ Med Ctr Utrecht Netherlands ol, Utrecht, Netherlands
Citazione:
H.J. Schelhaas et al., "Similarities and differences in the phenotype, genotype and pathogenesis of different spinocerebellar ataxias", EUR J NEUR, 7(3), 2000, pp. 309-314

Abstract

Historically, the differential diagnosis of the autosomal ataxias (ADCAs) has been difficult. In 1983 Harding proposed a useful clinical classification. Since 1983 ADCAs have been increasingly characterized in terms of theirgenetic locus and are referred to as spinocerebeller ataxia (SCA). The overlap between the SCA phenotypes and the high variability within SCA subgroups means that, for individual patients, the underlying mutation cannot be predicted reliable purely on the basis of clinical symptoms and so diagnosisshould be made on the genotype. However, for executing DNA analyses in order of clinical likelihood, neurologists may try to deduce the underlying mutation by using a clinical algorithm. In this article we not only describe such an algorithm but also plot the pathway from clinical presentation, genetic classification and mutation, abnormal protein to common neuropathologyin these disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 16:36:50