| H00869 | |
| H番号 | H00869 |
| 名称 | 白質消失病; VWM 型白質脳症; 中枢神経系白質形成不全症を伴う小児失調症; Cree 白質脳症 |
| 概要 | Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | EIF2B1 [HSA:1967] [KO:K03239] EIF2B2 [HSA:8892] [KO:K03754] EIF2B3 [HSA:8891] [KO:K03241] EIF2B4 [HSA:8890] [KO:K03680] EIF2B5 [HSA:8893] [KO:K03240] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A44.3 ICD-10: E75.2 MeSH: D056784 OMIM: 603896 |
| 文献 | PMID:16807905 著者 Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS タイトル Vanishing white matter disease: a review with focus on its genetics. 雑誌 Ment Retard Dev Disabil Res Rev 12:123-8 (2006) DOI:10.1002/mrdd.20104 PMID:20838246 著者 Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS タイトル Leukoencephalopathy with vanishing white matter: a review. 雑誌 J Neuropathol Exp Neurol 69:987-96 (2010) DOI:10.1097/NEN.0b013e3181f2eafa PMID:26285592 (EIF2B1) 著者 Wortham NC, Proud CG タイトル Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease. 雑誌 BMC Med Genet 16:64 (2015) DOI:10.1186/s12881-015-0204-z PMID:11704758 (EIF2B2, EIF2B5) 著者 Leegwater PA, Vermeulen G, Konst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS タイトル Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 雑誌 Nat Genet 29:383-8 (2001) DOI:10.1038/ng764 PMID:21484434 著者 Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S タイトル Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. 雑誌 Neurogenetics 12:259-61 (2011) DOI:10.1007/s10048-011-0284-7 |