English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Pro

Presents the zaia usage as premium feature

ZAIA

Presents AI Discovery search usage as a premium feature

AI Discovery

Presents AI Discovery explain and summary usage as a premium feature

Content Analysis

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Presents the pdf analysis as premium feature

PDF Analysis

1500 Top-up

3000 Top-up

Zendy Basic

2500 Top-up

Zendy Unlimited

Presents the access of premium content as premium feature

Premium Content

Vanishing white matter disease (VWM, OMIM #306896) is an autosomal recessive leukoencephalopathy typically of childhood onset. Patients usually present with progressive cerebellar ataxia and spasticity. MRI shows a diffuse leukoencephalopathy. Part of the abnormal cerebral white matter has the signal intensity of CSF on all pulse sequences, reflecting progressive disappearance of white matter, which is replaced by fluid. Five disease genes have been identified, EIF2B1-5 , which encode the five subunits of translation initiation factor eIF2B, essential for translation of mRNA into protein.1 Adult onset cases have been described.2–4 The p.Arg113His mutation in EIF2B5 is the most frequent mutation both in children and adults and is usually associated with a relatively benign phenotype.2 We report a late onset case homozygous for the p.Arg113His mutation in EIF2B5 , presenting with slowly progressive cognitive impairment with a neuropsychological profile of subcortical dementia.A 55-year-old woman was referred to our dementia unit because of inability …

Leukoencephalopathy with vanishing white matter presenting with presenile dementia