Hereditary spastic paraplegia type 1 (SPG1)

Evidence-based neurology checklist on hereditary spastic paraplegia type 1 (spg1): Genetics This is caused by mutations in the L1CAM gene on chromosome Xq The transmission is X-linked Spasticity correlates with cognitive impairment MASA syndrome HSAS syndrome CRASH syndrome

Genetics

  • This is caused by mutations in the L1CAM gene on chromosome Xq
  • The transmission is X-linked
  • Spasticity correlates with cognitive impairment

MASA syndrome

HSAS syndrome

CRASH syndrome

References

  1. Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994; 7:402-407.
  2. Ruiz JC, Cuppens H, Legius E, et al. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet 1995; 32:549-552.
  3. Schrander-Stumpel C, Meyer H, Merckx D, et al. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families. Genet Couns 1994; 5:1-10.
  4. Fryns JP, Spaepen A, Cassiman JJ, van den Berghe H. X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J Med Genet 1991; 28:429-431. 
  5. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 1995; 3:273-284.

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