Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.
The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical, radiological and genetic features of ovarioleukodystrophy. This is part of the spectrum of vanishing white matter disease and the first such case reported in the UK. The authors also discuss the literature on the disease.
Department of Neurology, Torbay Hospital, Torquay, UK. ibrahimimam2000@yahoo.com
Ibrahim
I
Imam
Jeremy
J
Brown
Philip
P
Lee
P K
PK
Thomas
Hadi
H
Manji
D000328:Adult; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000235:genetics*; D010049:Ovarian Diseases / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation
D020717:Eukaryotic Initiation Factor-2B