Hereditary spastic paraplegia type 12 (SPG12)

Evidence-based neurology checklist on hereditary spastic paraplegia type 12 (spg12): Genetics This is caused by mutations in the reticulon 2 (RTN2) gene on chromosome 19q The transmission is autosomal dominant It usually presents as pure HSP Clinical features Magnetic resonance imaging (MRI)

Genetics

  • This is caused by mutations in the reticulon 2 (RTN2) gene on chromosome 19q
  • The transmission is autosomal dominant
  • It usually presents as pure HSP

Clinical features

Magnetic resonance imaging (MRI)

References

  1. Orlacchio A, Kawarai T, Rogaeva E, et al. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002; 59:1395-1401.
  2. Montenegro G, Rebelo AP, Connell J, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012; 122:538-544. 
  3. Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000; 66:728-732. 

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