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Dominant form of vanishing white matter–like leukoencephalopathy
Author(s) -
Labauge Pierre,
Fogli Anne,
Castelnovo Giovanni,
Le Bayon Alice,
Horzinski Laetitia,
Nicoli François,
Cozzone Patrick,
Pagès Michel,
Briere Caroline,
MartyDouble Christiane,
Delhaume Olivier,
Gelot Antoinette,
BoespflugTanguy Odile,
Rodriguez Diana
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20573
Subject(s) - leukoencephalopathy , white matter , ataxia , medicine , pathology , disease , biology , magnetic resonance imaging , neuroscience , radiology
Abstract Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult‐onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease–like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes. Ann Neurol 2005