Hereditary spastic paraplegia type 56 (SPG56)

Evidence-based neurology checklist on hereditary spastic paraplegia type 56 (spg56): 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 Magnetic resonance imaging (MRI) brain:…

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

Magnetic resonance imaging (MRI) brain: features

Nerve conduction studies (NCS): features

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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