Department of Neurology, Institute of Post Graduate Medical Education & Research and Bangur Institute of Neuroscience, Kolkata, India.
Tremor Other Hyperkinet Mov (N Y). 2022 Aug 2;12:24. doi: 10.5334/tohm.705. eCollection 2022.
A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 () by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy. Gait apraxia as primary presenting feature of this rare variant of mitochondrial encephalomyopathy is hitherto un-reported.
一位 55 岁男性出现步态失用症，伴有上肢运动过度，认知相对保留，四肢轻度痉挛。他的检查显示脑部磁共振成像（MRI）存在后头部为主的脑白质营养不良，通过下一代测序发现线粒体丙氨酰-tRNA 合成酶 2（）复合杂合突变。他无症状的哥哥也有 MRI 改变，伴有轻微的轻度锥体束征。突变是一种罕见的线粒体脑病病因，可能导致脑白质营养不良、卵巢早衰、婴儿心肌病、肺发育不全和肌病。步态失用症作为这种罕见的线粒体脑肌病变异型的主要表现，目前尚未有报道。
