Hereditary spastic paraplegia type 56 (SPG56)

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

Hereditary spastic paraplegia type 56 (SPG56). This is caused by mutations in the CYP2UI gene on chromosome 4q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CYP2UI gene on chromosome 4q
  • The transmission is autosomal recessive
  • The onset is usually in the first decade

Clinical features

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Magnetic resonance imaging (MRI) brain: features

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Nerve conduction studies (NCS): features

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References

  1. Leonardi L, Ziccardi L, Marcotulli C, et al. Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family. J Neurol 2016; 263:781-783. 
  2. Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012; 91:1051-1064. 
  3. Masciullo M, Tessa A, Perazza S, Santorelli FM, Perna A, Silvestri G. Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56. Eur J Paediatr Neurol 2016; 20:444-448.

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