Hereditary spastic paraplegia type 31 (SPG31)

Evidence-based neurology checklist on hereditary spastic paraplegia type 31 (spg31): Genetics This is caused by mutations in the REEP1 gene on chromosome 2p The transmission is autosomal dominant Related gene disorders Clinical features

Genetics

  • This is caused by mutations in the REEP1 gene on chromosome 2p
  • The transmission is autosomal dominant

Related gene disorders

Clinical features

References

  1. Erlich Y, Edvardson S, Hodges E, et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 2011; 21:658-664.
  2. Züchner S, Kail ME, Nance MA, et al. A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics 2006; 7:127-129. 
  3. Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC Med Genet 2008; 9:71. 
  4. Hewamadduma C, McDermott C, Kirby J, et al. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics 2009; 10:105-110.
  5. McCorquodale DS 3rd, Ozomaro U, Huang J, et al. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clin Genet 2011; 79:523-530. 
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