Friedreich's ataxia mimicking hereditary motor and sensory neuropathy

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Title

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy (EN)

Creator

Panas, M (EN)

Kalfakis, N (EN)

Karadima, G (EN)

Davaki, P (EN)

Vassilopoulos, D (EN)

Type

journalArticle (EN)

Partial document
Publication in journal (EN)

Article
Scientific article (EN)

Issued

2014-03-01T01:52:05Z

2002 (EN)

Year

2002 (EN)

Description

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)

Scientific field

Clinical Neurology (EN)

Medical and Health Sciences ▶ Clinical Medicine
Clinical Neurology (EN)

Subject

Friedreich's ataxia (EN)

GENE (EN)

EXPANSION (EN)

DISEASE (EN)

PHENOTYPE (EN)

X25 gene (EN)

CLINICAL-FEATURES (EN)

MUTATIONS (EN)