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Peripheral neuropathy in mitochondrial disease.

G Pezeshkpour, C Krarup, F Buchthal

    Journal of the Neurological Sciences
    |February 1, 1987
    PubMed
    Summary
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    This study investigated mitochondrial disease in two patients, finding axonal neuropathy and myopathy. Partial enzyme deficiency in muscle cytochrome c oxidase suggests a complex role in these neuromyopathies.

    Area of Science:

    • Neurology
    • Biochemistry
    • Genetics

    Background:

    • Mitochondrial diseases are a group of inherited metabolic disorders.
    • Neuromyopathies can result from mitochondrial dysfunction affecting both the nervous system and muscles.

    Purpose of the Study:

    • To investigate the clinical, electrophysiological, histological, and biochemical features of mitochondrial disease in two patients.
    • To explore the pathogenetic role of partial enzyme deficiency in neuromyopathies.

    Main Methods:

    • Clinical examination and assessment.
    • Electrophysiological studies (nerve conduction studies, EMG).
    • Histological analysis of muscle and nerve biopsies.
    • Biochemical assays of muscle enzyme activity (cytochrome c oxidase).

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    Main Results:

    • Both patients presented with moderately advanced axonal neuropathy and myopathy.
    • Mitochondrial paracrystalline inclusions were observed in Schwann cells, fibroblasts, and muscle fibers.
    • Muscle cytochrome c oxidase activity was reduced by over 50%.
    • Electrophysiological findings indicated myopathy, neuropathy, and impaired excitation-contraction coupling.

    Conclusions:

    • The findings highlight a complex presentation of mitochondrial disease involving both neuropathy and myopathy.
    • The partial deficiency of muscle cytochrome c oxidase raises questions about its specific contribution to the observed neuromyopathies.
    • Further research is needed to fully elucidate the pathogenetic mechanisms.