LAMB1 leukoencephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

LAMB1 leukoencephalopathy. This is caused by mutations in the LAMB1 gene. The gene encodes laminin subunit beta 1. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the LAMB1 gene
  • The gene encodes laminin subunit beta 1
  • The transmission is autosomal recessive

Pathology

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Onset types

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Features of early onset disease

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Features of adult-onset disease

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References

  1. Yasuda R, Yoshida T, Mizuta I, et al. Adult-onset leukoencephalopathy with homozygous LAMB1 missense mutation. Neurol Genet 2020; 6:e442.
  2. Radmanesh F, Caglayan AO, Silhavy JL, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 2013; 92:468-474. 
  3. Okazaki T, Saito Y, Hayashida T, et al. Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: expanding the phenotype of LAMB1 gene mutations. Clin Genet 2018; 94:391-392.
  4. Tonduti D, Dorboz I, Renaldo F, et al. Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations. Neurology 2015; 84:2195-2197.

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