KEGG   DISEASE: ラクナ梗塞を伴わない成人発症白質脳症
エントリ  
H03113                      Disease                                
名称    
ラクナ梗塞を伴わない成人発症白質脳症
概要    
Leukoencephalopathy without lacunae, adult-onset (LUCAO) is a novel familial cerebral small vessel disease characterized by the association of a hippocampal-type episodic memory defect and diffuse vascular leukoencephalopathy. End-truncating mutations in LAMB1 have been identified in affected individuals. LAMB1 encodes laminin B1, one of the extracellular matrix (ECM) proteins that makes up the basement membrane.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  脳血管疾患
   8B22  明示された脳血管疾患
    H03113  ラクナ梗塞を伴わない成人発症白質脳症
病因遺伝子 
LAMB1 [HSA:3912] [KO:K05636]
リンク   
ICD-11: 8B22.Y
OMIM: 621424
文献    
  著者
Aloui C, Herve D, Marenne G, Savenier F, Le Guennec K, Bergametti F, Verdura E, Ludwig TE, Lebenberg J, Jabeur W, Morel H, Coste T, Demarquay G, Bachoumas P, Cogez J, Mathey G, Bernard E, Chabriat H, Genin E, Tournier-Lasserve E
  タイトル
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
  雑誌
Ann Neurol 90:962-975 (2021)
DOI:10.1002/ana.26242
文献    
  著者
Morel H, Bailly L, Urbanczyk C, Herve D, Berroir S, Le Bouc R, Levy R, Meyer M, Aloui C, Tournier-Lasserve E, Mathey G
  タイトル
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations.
  雑誌
Neurol Genet 9:e200069 (2023)
DOI:10.1212/NXG.0000000000200069
LinkDB    

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