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4 results

  • Leukodystrophy Due to eIF2B Mutations in Adults

  • Sumanth Shivaram, Madhu Nagappa, Doniparthi Venkata Seshagiri, Jitender Saini, Periyasamy Govindaraj, Sanjib Sinha, Parayil Sankaran Bindu, Arun B. Taly
  • Journal:
    Canadian Journal of Neurological Sciences / Volume 49 / Issue 5 / September 2022
    Published online by Cambridge University Press:
    02 September 2021, pp. 708-712
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  • Vanishing white matter disease (VWMD) due to eIF2B mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings. Both had spastic ataxia and cognitive and behavioural disturbances. Other neurological features included myoclonic jerks and parkinsonism. At the last follow-up (duration: 2–9 years), one patient was wheelchair-bound. VWMD is rare in adults but should be suspected based on radiological findings and confirmed by eIF2B mutation.