Hereditary spastic paraplegia type 26 (SPG26)

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

Hereditary spastic paraplegia type 26 (SPG26). This is caused by mutations in the B4GALNT1 gene on chromosome 12p. Fully referenced neurology checklist.

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

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Peripheral features

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Magnetic resonance imaging (MRI) brain: features

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Blood tests

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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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