Hereditary spastic paraplegia type 30 (SPG30)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 30 (SPG30). This is caused by mutations in the KIF1A gene on chromosome 2q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain: features

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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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