Published in:
01-08-2011 | Letter to the Editors
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5
Authors:
Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki, Akatsuki Kubota, Ayumi Hida, Hisatomo Kowa, Yoko Fukuda, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shigeki Aoki, Shunya Takizawa, Jun Shimizu, Jun Goto, Christopher G. Proud, Shoji Tsuji
Published in:
Neurogenetics
|
Issue 3/2011
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Excerpt
Leukoencephalopathy with vanishing white matter (VWM) is a type of leukoencephalopathy with autosomal recessive inheritance. Magnetic resonance imaging (MRI) reveals diffuse leukoencephalopathy with lesions having cerebrospinal fluid (CSF)-like signals. The clinical presentations include progressive cerebellar ataxia, spasticity, and mental decline. The course is chronic progressive with episodes of rapid deterioration following a minor head trauma. Mutations in the five gene-encoding subunits of the translation initiation factor eIF2B,
EIF2B1-
5, have been identified as the causative mutations for VWM. Although the age at onset of VWM is usually 2–6 years, patients with adult onset have been described. All adult-onset cases except one have been found to be associated with mutations in
EIF2B5 [
1]. We report cases of adult-onset VWM with novel missense mutations in
EIF2B2,
EIF2B3, and
EIF2B5, which showed decreased eIF2B activities. …
