Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

Panas, M; Kalfakis, N; Karadima, G; Davaki, P; Vassilopoulos, D

dc.contributor.author	Panas, M	en
dc.contributor.author	Kalfakis, N	en
dc.contributor.author	Karadima, G	en
dc.contributor.author	Davaki, P	en
dc.contributor.author	Vassilopoulos, D	en
dc.date.accessioned	2014-03-01T01:52:05Z
dc.date.available	2014-03-01T01:52:05Z
dc.date.issued	2002	en
dc.identifier.issn	0340-5354	en
dc.identifier.uri	https://dspace.lib.ntua.gr/xmlui/handle/123456789/26556
dc.subject	Charcot-Marie-Tooth neuropathy	en
dc.subject	Friedreich's ataxia	en
dc.subject	X25 gene	en
dc.subject.classification	Clinical Neurology	en
dc.subject.other	CLINICAL-FEATURES	en
dc.subject.other	GENE	en
dc.subject.other	EXPANSION	en
dc.subject.other	MUTATIONS	en
dc.subject.other	PHENOTYPE	en
dc.subject.other	DISEASE	en
dc.title	Friedreich's ataxia mimicking hereditary motor and sensory neuropathy	en
heal.type	journalArticle	en
heal.language	English	en
heal.publicationDate	2002	en
heal.abstract	Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreich's ataxia. These patients seem to represent a form of Friedreich's ataxia mimicking Charcot-Marie-Tooth disease.	en
heal.publisher	DR DIETRICH STEINKOPFF VERLAG	en
heal.journalName	JOURNAL OF NEUROLOGY	en
dc.identifier.isi	ISI:000179246800014	en
dc.identifier.volume	249	en
dc.identifier.issue	11	en
dc.identifier.spage	1583	en
dc.identifier.epage	1586	en