Hereditary spastic paraplegia type 30 (SPG30)

Evidence-based neurology checklist on hereditary spastic paraplegia type 30 (spg30): Genetics This is caused by mutations in the KIF1A gene on chromosome 2q The transmission is autosomal dominant The mutation also causes hereditary sensory and autonomic neuropathy (HSAN) The mean onset age is 17…

Genetics

  • This is caused by mutations in the KIF1A gene on chromosome 2q
  • The transmission is autosomal dominant
  • The mutation also causes hereditary sensory and autonomic neuropathy (HSAN)
  • The mean onset age is 17 years

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Citterio A, Arnoldi A, Panzeri E, et al. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. J Neurol 2015; 262:2684-2690.
  2. Klebe S, Lossos A, Azzedine H, et al. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 2012; 20:645-649. 
  3. 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. 

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