Abstract:
:Leucoencephalopathy with vanishing white matter (VWM) is caused by mutations in the genes encoding for one of the five subunits that constitute the eukaryotic initiation factor 2B (eIF2B), and is characterized by a highly suggestive MRI pattern indicating vanishing of the cerebral white matter. Seizures are well known to occur in VWM disease, but usually do not represent a prominent feature. We report a 40-year-old man who was diagnosed with progressive myoclonus epilepsy in his twenties. All major causes of progressive myoclonus epilepsy (PME) were excluded. Brain MRI showed extensive white matter involvement. Mutation analysis of the EIF2B5 gene revealed a homozygous c.338G>A (p.Arg113His) mutation.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Jansen AC,Andermann E,Niel F,Creveaux I,Boespflug-Tanguy O,Andermann Fdoi
10.1111/j.1528-1167.2008.01542.xsubject
Has Abstractpub_date
2008-05-01 00:00:00pages
910-3issue
5eissn
0013-9580issn
1528-1167pii
EPI1542journal_volume
49pub_type
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