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Amyotrophic Lateral Sclerosis With Ragged-Red Fibers
Michio Hirano, MD;
Corrado Angelini, MD;
Pasquale Montagna, MD;
Arthur P. Hays, MD;
Kurenai Tanji, MD;
Hiroshi Mitsumoto, MD;
Paul H. Gordon, MD;
Ali B. Naini, PhD;
Salvatore DiMauro, MD;
Lewis P. Rowland, MD
Arch Neurol. 2008;65(3):403-406.
Background Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects.
Objectives To describe a patient with typical ALS and the finding of ragged-red fibers in muscle biopsy specimens and to review the literature on respiratory chain defects in ALS and SMA.
Design Case report and review of the literature.
Setting Collaboration between tertiary care academic hospitals.
Patient A 65-year-old man with typical ALS.
Main Outcome Measures The patient had 10% ragged-red fibers and 3% cytochrome-c oxidase–negative fibers in muscle biopsy specimens but no biochemical defects of respiratory chain enzymes or alterations of mitochondrial DNA (mtDNA).
Results Amyotrophic lateral sclerosis with ragged-red fibers has been reported in 5 families and is associated with mtDNA mutations in some subjects. Spinal muscular atrophy without mutations in the survival motor neuron gene (SMN; OMIM 600354) has been associated with mtDNA depletion or with mutations in the cytochrome-c oxidase assembly gene (SCO2; OMIM 604377).
Conclusion Respiratory chain defects can mimic ALS or SMA and should be considered in the differential diagnosis.
Author Affiliations: Departments of Neurology (Drs Hirano, Hays, Tanji, Mitsumoto, Gordon, Naini, DiMauro, and Rowland) and Pathology (Drs Hays and Tanji), Columbia University Medical Center, New York, New York; and Department of Neurology, University of Padova, Padova (Dr Angelini), and Department of Neurological Sciences, University of Bologna, Bologna (Dr Montagna), Italy.
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