Hereditary spastic paraplegia type 17 (SPG17)

Evidence-based neurology checklist on hereditary spastic paraplegia type 17 (spg17): Genetics This is caused by mutations in the BSCL2 gene on chromosome 11q The transmission is autosomal dominant It is a seipinopathy Related disorders Silver syndrome Other features Differential diagnosis

Genetics

  • This is caused by mutations in the BSCL2 gene on chromosome 11q
  • The transmission is autosomal dominant
  • It is a seipinopathy

Related disorders

Silver syndrome

Other features

Differential diagnosis

References

  1. Musacchio T, Zaum AK, Üçeyler N, et al. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia. J Neurol 2017; 264:11-20. 
  2. Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004; 36:271-276.
  3. Ito D, Suzuki N. Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress. Rinsho Shinkeigaku 2007; 47:329-335. 
  4. Windpassinger C, Wagner K, Petek E, Fischer R, Auer-Grumbach M. Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum Gene 2003; 114:99-109. 
  5. Chaudhry R, Kidambi A, Brewer MH, et al. Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. Muscle Nerve 2013; 47:922-924. 
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