Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.
Federico
A
A
Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy. federico@unisi.it
Scali
O
O
Stromillo
M L
ML
Di Perri
C
C
Bianchi
S
S
Sicurelli
F
F
De Stefano
N
N
Malandrini
A
A
Dotti
M T
MT
D002675:Child, Preschool; D015140:Dementia, Vascular / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D003711:Demyelinating Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
D020717:Eukaryotic Initiation Factor-2B