Friedreich's Ataxia Associated With Mitochondrial Myopathy: Clinicopathologic Report

A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this findi...

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Bibliographic Details
Published in:Journal of child neurology 2002-06, Vol.17 (6), p.453-456
Main Authors: Gallagher, Catherine L., Waclawik, Andrew J., Beinlich, Brad R., Harding, Cary O., Pauli, Richard M., Poirer, Josée, Pandolfo, Massimo, Shahriar Salamat, M.
Format: Article
Language:English
Subjects:
Adolescent
Autopsy
Biopsy
Carnitine - therapeutic use
Disease Progression
DNA, Mitochondrial - analysis
Frataxin
Friedreich Ataxia - complications
Friedreich Ataxia - drug therapy
Friedreich Ataxia - genetics
Friedreich Ataxia - pathology
Humans
Iron-Binding Proteins - genetics
Iron-Binding Proteins - metabolism
Male
Microscopy, Electron
Mitochondria, Muscle - genetics
Mitochondria, Muscle - pathology
Mitochondrial Myopathies - genetics
Muscle, Skeletal - pathology
Mutation
Pedigree
Phenotype
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Summary:A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this finding. Molecular genetic and pathologic studies confirmed a diagnosis of Friedreich's ataxia in the proband and affected relatives. Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease. The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia. The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease. (J Child Neurol 2002;17:453-456).
ISSN:0883-0738
1708-8283
DOI:10.1177/088307380201700612