Hereditary spastic paraplegia type 10 (SPG10)

Evidence-based neurology checklist on hereditary spastic paraplegia type 10 (spg10): Genetics This is caused by mutations in the KIF5A gene on chromosome 12q The transmission is autosomal dominant It accounts for 10% of complicated HSP It possibly demonstrates genetic anticipation Central features…

Genetics

  • This is caused by mutations in the KIF5A gene on chromosome 12q
  • The transmission is autosomal dominant
  • It accounts for 10% of complicated HSP
  • It possibly demonstrates genetic anticipation

Central features

Peripheral features

References

  1. Carosi L, Lo Giudice T, Di Lullo M, et al. Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. JNNP 2015; 86:702-704.
  2. Blair MA, Ma S, Hedera P. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics 2006; 7:47-50. 
  3. López E, Casasnovas C, Giménez J, Santamaría R, Terrazas JM, Volpini V. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy. J Neurol Sci 2015; 358:422-427.
  4. Kaji S, Kawarai T, Miyamoto R, et al. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis. J Neurol Sci 2016; 364:45-49. 

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