Hereditary spastic paraplegia type 26 (SPG26)

Evidence-based neurology checklist on hereditary spastic paraplegia type 26 (spg26): Genetics This is caused by mutations in the B4GALNT1 gene on chromosome 12p The transmission is autosomal recessive The onset is in the first to second decades Central features Peripheral features Magnetic…

Genetics

  • This is caused by mutations in the B4GALNT1 gene on chromosome 12p
  • The transmission is autosomal recessive
  • The onset is in the first to second decades

Central features

Peripheral features

Magnetic resonance imaging (MRI) brain: features

Blood tests

References

  1. Boukhris A, Schule R, Loureiro JL, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet 2013; 93:118-123. 
  2. Wilkinson PA, Simpson MA, Bastaki L, et al. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet 2005; 42:80-82. 
  3. Dad R, Walker S, Scherer SW, et al. Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. Neurol Genet 2017; 3:e156. 
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