A middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated but electromyography showed no evidence of myopathy. Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in VPS13A gene, consistent with autosomal recessive chorea-acanthocytosis.
Keyphrases
- peripheral blood
- middle aged
- computed tomography
- muscular dystrophy
- white matter
- copy number
- resting state
- genome wide
- intellectual disability
- room temperature
- contrast enhanced
- functional connectivity
- protein kinase
- cerebral palsy
- autism spectrum disorder
- early onset
- transcription factor
- duchenne muscular dystrophy
- genome wide analysis