Literature DB >> 12420100

Friedreich's ataxia mimicking hereditary motor and sensory neuropathy.

Marios Panas1, Nikolaos Kalfakis, Georgia Karadima, Panagiota Davaki, Demetris Vassilopoulos.   

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.

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Year:  2002        PMID: 12420100     DOI: 10.1007/s00415-002-0902-2

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  2 in total

Review 1.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

2.  Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia.

Authors:  Semiha Kurt; Betul Cevik; Durdane Aksoy; E Irmak Sahbaz; Aslı Gundogdu Eken; A Nazli Basak
Journal:  Case Rep Neurol Med       Date:  2016-09-07
  2 in total

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