Document Detail

A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
MedLine Citation:
PMID:  9486868     Owner:  NLM     Status:  MEDLINE    
Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski sign, loss of position and vibration senses, cardiomyopathy, and carbohydrate intolerance. It is the most common inherited ataxia, and is associated with a GAA triplet repeat expansion in the first intron of the X25 gene on the long arm of chromosome 9. We present a case whose clinical diagnosis was initially confounded by the mildness of the ataxic phenotype and a family history of multiple sclerosis. Evaluation of the X25 gene revealed that the patient was homozygous for the GAA triplet repeat expansion, pathognomonic of FRDA. Investigation of her sural nerve biopsy revealed a significantly smaller expansion size, constituting the first direct demonstration of somatic mosaicism involving the nervous system in FRDA. We speculate that a similar contraction in pathologically affected tissues could be the molecular basis for the mildness of the ataxia.
H Machkhas; S I Bidichandani; P I Patel; Y Harati
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  21     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  1998 Mar 
Date Detail:
Created Date:  1998-03-13     Completed Date:  1998-03-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  390-3     Citation Subset:  IM    
Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
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MeSH Terms
Chromosomes, Human, Pair 17*
Electrophysiology / methods
Friedreich Ataxia / genetics*,  pathology,  physiopathology*
Heterozygote Detection
Iron-Binding Proteins*
Lymphocytes / physiology
Multiple Sclerosis / genetics
Nerve Fibers, Myelinated / pathology
Peripheral Nerves / physiology
Phosphotransferases (Alcohol Group Acceptor) / genetics
Polymerase Chain Reaction
Sural Nerve / pathology*,  physiopathology*
Trinucleotide Repeats*
Reg. No./Substance:
0/Iron-Binding Proteins; 0/frataxin; EC 2.7.1.-/Phosphotransferases (Alcohol Group Acceptor)

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