KEGG   DISEASE: 卵巣機能障害を伴う進行性白質脳症
エントリ  
H02200                                                             
名称    
卵巣機能障害を伴う進行性白質脳症;
卵巣白質ジストロフィー
  上位グループ
進行性白質脳症 [DS:H02598]
概要    
Leukoencephalopathy, progressive, with ovarian failure has a clinical presentation previously described as ovarioleukodystrophy. Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B [DS:H00869]. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes mitochondrial alanyl-tRNA synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  多発性硬化症またはその他の白質異常
   8A44  白質ジストロフィー
    H02200  卵巣機能障害を伴う進行性白質脳症
パスウェイ 
hsa00970  Aminoacyl-tRNA biosynthesis
病因遺伝子 
AARS2 [HSA:57505] [KO:K01872]
リンク   
ICD-11: 8A44.3
MeSH: C565836
OMIM: 615889
文献    
PMID:24808023
  著者
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS
  タイトル
Novel (ovario) leukodystrophy related to AARS2 mutations.
  雑誌
Neurology 82:2063-71 (2014)
DOI:10.1212/WNL.0000000000000497
文献    
PMID:18678442
  著者
Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP
  タイトル
The ovarioleukodystrophy.
  雑誌
Clin Neurol Neurosurg 110:1035-7 (2008)
DOI:10.1016/j.clineuro.2008.06.002
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