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Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations inEIF2B2,EIF2B3, andEIF2B5

✍ Scribed by 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

Book ID
106257375
Publisher
Springer
Year
2011
Tongue
English
Weight
199 KB
Volume
12
Category
Article
ISSN
1364-6745

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Mutations in each of the five subunits o
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
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## Abstract Leukoencephalopathy with vanishing white matter is a recently defined autosomal recessive disorder. The course is chronic progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. A previous study showed that mutations in the genes encoding th

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Autosomal recessive mutations in eukaryotic initiation factor 2B (eIF2B) cause leukoencephalopathy vanishing white matter with a wide clinical spectrum. eIF2B comprises five subunits (Ξ±-Ξ΅; genes EIF2B1, 2, 3, 4 and 5) and is the guanine nucleotide-exchange factor (GEF) for eIF2. It plays a key role