Shree Ritu, Mehta Sahil, Goyal Manoj K, Gaspar Balan L, Lal Vivek
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Ann Indian Acad Neurol. 2019 Apr-Jun;22(2):228-230. doi: 10.4103/aian.AIAN_436_17.
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.
线粒体功能障碍在帕金森病的发病机制中起重要作用。线粒体DNA或核DNA的原发性基因异常可导致帕金森综合征。线粒体帕金森综合征表现为帕金森综合征的典型特征以及多系统受累。基因分析对于明确诊断至关重要，但这并非总是可行的，尤其是在发展中国家。在这种情况下，肌肉活检可能会有所帮助，正如我们对两名同胞的报告所示，在该报告中基于肌肉活检做出了线粒体帕金森综合征的诊断。
