Hereditary spastic paraplegia type 8 (SPG8)

Evidence-based neurology checklist on hereditary spastic paraplegia type 8 (spg8): Genetics This is caused by mutations in the strumpellin (KIAA0196) gene on chromosome 8q The transmission is autosomal dominant It is usually a pure HSP Clinical features

Genetics

  • This is caused by mutations in the strumpellin (KIAA0196) gene on chromosome 8q
  • The transmission is autosomal dominant
  • It is usually a pure HSP

Clinical features

References

  1. de Bot ST, Vermeer S, Buijsman W, et al. Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. J Neurol 2013; 260:1765-1769. 
  2. Valdmanis PN, Meijer IA, Reynolds A, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007; 80:152-161.
  3. Ichinose Y, Koh K, Fukumoto M, et al. Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. Clin Neurol Neurosurg 2016; 144:36-38. 
  4. Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol 2013; 260:2414-2416.  

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