KEGG   DISEASE: Leukoencephalopathy without lacunae, adult-onset
Entry
H03113                      Disease                                
Name
Leukoencephalopathy without lacunae, adult-onset
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H03113  Leukoencephalopathy without lacunae, adult-onset
Gene
LAMB1 [HSA:3912] [KO:K05636]
Other DBs
ICD-11: 8B22.Y
OMIM: 621424
Reference
PMID:34606115
  Authors
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
  Title
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
  Journal
Ann Neurol 90:962-975 (2021)
DOI:10.1002/ana.26242
Reference
PMID:37063705
  Authors
Morel H, Bailly L, Urbanczyk C, Herve D, Berroir S, Le Bouc R, Levy R, Meyer M, Aloui C, Tournier-Lasserve E, Mathey G
  Title
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations.
  Journal
Neurol Genet 9:e200069 (2023)
DOI:10.1212/NXG.0000000000200069
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