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Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries
Ritu Shree1, Sahil Mehta1, Manoj K Goyal1, Balan L Gaspar2, Vivek Lal1
1 Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Correspondence Address:
Sahil Mehta,
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/aian.AIAN_436_17
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Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of two siblings where a diagnosis of mitochondrial parkinsonism was made on the basis of muscle biopsy.
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