The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques · 2021
Leukodystrophy Due to eIF2B Mutations in Adults.
СтатьяНазвание и аннотация: Перевод в очереди
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Shivaram Sumanth, Nagappa Madhu, Seshagiri Doniparthi Venkata, Saini Jitender, Govindaraj Periyasamy, Sinha Sanjib, Bindu Parayil Sankaran, Taly Arun B
Аннотация
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.