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Neurological mitochondrial cytopathies.

M M Mehndiratta1, P Agarwal, M Tatke

  • 1Department of Neurology, G.B. Pant Hospital, New Delhi, 110002, India. mmehndi@vsnl.com

Neurology India
|July 23, 2002
PubMed
Summary

This study reports on fourteen Indian patients with neurological mitochondrial cytopathies, identifying common syndromes like MELAS and MERRF. Muscle biopsies revealed mitochondrial abnormalities, highlighting the need for more research in India.

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Area of Science:

  • Neurology
  • Genetics
  • Mitochondrial Biology

Background:

  • Mitochondrial cytopathies are diverse genetic disorders affecting mitochondrial structure and function.
  • Limited research on mitochondrial cytopathies exists in India.
  • This study focuses on characterizing neurological cases from India.

Purpose of the Study:

  • To report and characterize fourteen cases of neurological mitochondrial cytopathies in Indian patients.
  • To identify common clinical syndromes and diagnostic findings.
  • To contribute to the limited existing data from India.

Main Methods:

  • Retrospective analysis of fourteen patients diagnosed with neurological mitochondrial cytopathies between 1997 and 2000.
  • Clinical assessment, serum lactic acid level measurement, muscle biopsy with succinic dehydrogenase staining, and limited mitochondrial DNA analysis.

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  • MRI brain imaging was performed for selected cases.

    • Main Results:

    • Twelve patients were classified into defined syndromes: three MELAS, three MERRF, three Kearns-Sayre Syndrome (KSS), and three mitochondrial myopathy.
    • Two patients presented with undefined syndromes (paroxysmal kinesogenic dystonia and generalized chorea).
    • Elevated serum lactic acid levels were observed in all patients. Muscle biopsies showed subsarcolemmal mitochondrial accumulation in 12 cases. MRI revealed characteristic findings for MELAS, chorea, and MERRF.

    Conclusions:

    • Neurological mitochondrial cytopathies present with diverse clinical syndromes in India.
    • Muscle biopsy and biochemical markers like serum lactic acid are crucial for diagnosis.
    • Further research, including comprehensive genetic analysis, is needed to understand these disorders in the Indian population.