Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy

Tremor and Other Hyperkinetic Movements

article

Arka Prava Chakraborty¹  Adreesh Mukherjee¹  Aishee Bhattacharyya¹  Dwaipayan Bhattacharyya²  Biman Kanti Ray¹  Atanu Biswas¹ 

[1] Department of Neurology, Institute of Post Graduate Medical Education & Research and Bangur Institute of Neuroscience;Senior Resident, Department of Neurology, Institute of Post Graduate Medical Education & Research and Bangur Institute of Neuroscience

关键词: AARS2 mutation;    gait apraxia;    familial;    leukodystrophy;    MRI;   

DOI  :  10.5334/tohm.705

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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 (AARS2) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. AARS2 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.

【 授权许可】

CC BY