Friedreich's ataxia associated with mitochondrial myopathy: Clinicopathologic report

Catherine L. Gallagher, Andrew J. Waclawik, Brad R. Beinlich, Cary Harding, Richard M. Pauli, Josée Poirer, Massimo Pandolfo, M. Shahriar Salamat

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)453-456
Number of pages4
JournalJournal of Child Neurology
Volume17
Issue number6
StatePublished - Jun 2002

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Mitochondrial Myopathies
Friedreich Ataxia
Skeletal Muscle
Mutation
Carnitine
Muscular Diseases
Mitochondrial DNA
Palliative Care
Molecular Biology
Phenotype
Biopsy
Genes
Proteins
frataxin

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Gallagher, C. L., Waclawik, A. J., Beinlich, B. R., Harding, C., Pauli, R. M., Poirer, J., ... Shahriar Salamat, M. (2002). Friedreich's ataxia associated with mitochondrial myopathy: Clinicopathologic report. Journal of Child Neurology, 17(6), 453-456.

Friedreich's ataxia associated with mitochondrial myopathy : Clinicopathologic report. / Gallagher, Catherine L.; Waclawik, Andrew J.; Beinlich, Brad R.; Harding, Cary; Pauli, Richard M.; Poirer, Josée; Pandolfo, Massimo; Shahriar Salamat, M.

In: Journal of Child Neurology, Vol. 17, No. 6, 06.2002, p. 453-456.

Research output: Contribution to journalArticle

Gallagher, CL, Waclawik, AJ, Beinlich, BR, Harding, C, Pauli, RM, Poirer, J, Pandolfo, M & Shahriar Salamat, M 2002, 'Friedreich's ataxia associated with mitochondrial myopathy: Clinicopathologic report', Journal of Child Neurology, vol. 17, no. 6, pp. 453-456.
Gallagher CL, Waclawik AJ, Beinlich BR, Harding C, Pauli RM, Poirer J et al. Friedreich's ataxia associated with mitochondrial myopathy: Clinicopathologic report. Journal of Child Neurology. 2002 Jun;17(6):453-456.
Gallagher, Catherine L. ; Waclawik, Andrew J. ; Beinlich, Brad R. ; Harding, Cary ; Pauli, Richard M. ; Poirer, Josée ; Pandolfo, Massimo ; Shahriar Salamat, M. / Friedreich's ataxia associated with mitochondrial myopathy : Clinicopathologic report. In: Journal of Child Neurology. 2002 ; Vol. 17, No. 6. pp. 453-456.
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