Hereditary spastic paraplegia type 9 (SPG9)

Evidence-based neurology checklist on hereditary spastic paraplegia type 9 (spg9): Genetics This is caused by mutations in chromosome 10q The transmission is autosomal dominant It possibly demonstrates genetic anticipation Neurological features Skeletal features Ophthalmic features Systemic features

Genetics

  • This is caused by mutations in chromosome 10q
  • The transmission is autosomal dominant
  • It possibly demonstrates genetic anticipation

Neurological features

Skeletal features

Ophthalmic features

Systemic features

References

  1. Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999; 64:586-593.
  2. Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet 1996; 62:42-47.
  3. Lo Nigro C, Cusano R, Scaranari M, et al. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Eur J Hum Genet 2000; 8:777-782. 
  4. Coutelier M, Goizet C, Durr A, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015; 138:2191-2205.

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