The spectrum of mutations for the diagnosis of vanishing white matter disease

Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding fo...

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Bibliographic Details
Published in:Neurological sciences 2006-09, Vol.27 (4), p.271-277
Main Authors: Scali, O, Di Perri, C, Federico, A
Format: Article
Language:English
Subjects:
Brain Diseases - genetics
Brain Diseases - pathology
Eukaryotic Initiation Factor-2B - genetics
Hereditary Central Nervous System Demyelinating Diseases - genetics
Hereditary Central Nervous System Demyelinating Diseases - pathology
Humans
Magnetic Resonance Imaging
Models, Biological
Mutation
Neurology
Neurosciences
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Summary:Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. VWM is characterised by ataxia, spasticity, variable optic atrophy and intermittent episodes of acute regression of clinical and neurological status. Another key step in diagnosis, besides clinical picture and gene sequencing, is magnetic resonance imaging (MRI), which typically shows a progressive rarefaction of the brain white matter, and its replacement by cerebrospinal fluid (CSF). In the present paper we summarise the up-to-date knowledge about VWM and include the full list of known mutations.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-006-0683-y