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Titolo:
Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member
Autore:
Schelhaas, HJ; Van der Hulst, M; Ippel, E; Prevo, RL; Hageman, G;
Indirizzi:
Med Spectrum Twente, Dept Neurol & Radiol, NL-7500 KA Enschede, Netherlands Med Spectrum Twente Enschede Netherlands NL-7500 KA nschede, Netherlands Univ Med Ctr, Div Med Genet, Utrecht, Netherlands Univ Med Ctr Utrecht Netherlands r, Div Med Genet, Utrecht, Netherlands
Titolo Testata:
CLINICAL NEUROLOGY AND NEUROSURGERY
fascicolo: 4, volume: 101, anno: 1999,
pagine: 253 - 255
SICI:
0303-8467(199912)101:4<253:EOCAWR>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRIEDREICHS ATAXIA;
Keywords:
Friedreich's ataxia; FARR; early onset cerebellar ataxia; EOCA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Schelhaas, HJ Med Spectrum Twente, Dept Neurol & Radiol, Postbus 50 000, NL-7500 KA Enschede, Netherlands Med Spectrum Twente Postbus 50 000 Enschede Netherlands NL-7500 KA
Citazione:
H.J. Schelhaas et al., "Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member", CLIN NEUROL, 101(4), 1999, pp. 253-255

Abstract

Early onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before the age of 25 years and a wide spectrum of associated features. Itis distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes, a better prognosis, and the absence of CAA expansion inthe frataxin gene. Although EOCA is thought to be a hereditary disorder with an autosomal recessive mode of inheritance, genetic heterogeneity might underlie the spectrum of clinical features. In this case report we describea patient with EOCA accompanied by pes cavus, hammer toes and peripheral neuropathy. The patient's father did not have any ataxia, but had the same foot deformities as his daughter and a slight peripheral neuropathy. The possible relationship between these clinical features is discussed. (C) 1999 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 18:15:38