Hereditary spastic paraplegia type 5 (SPG5)

Evidence-based neurology checklist on hereditary spastic paraplegia type 5 (spg5): Genetics This is caused by mutations in the CYP7B1 gene on chromosome 8q The transmission is autosomal recessive It usually presents as pure HSP The mutation results in the accumulation of oxysterols Clinical…

Genetics

  • This is caused by mutations in the CYP7B1 gene on chromosome 8q
  • The transmission is autosomal recessive
  • It usually presents as pure HSP
  • The mutation results in the accumulation of oxysterols

Clinical features

Investigations

Potential treatment

References

  1. Goizet C, Boukhris A, Durr A, et al. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 2009; 132:1589-1600.  
  2. Lan MY, Yeh TH, Chang YY, et al. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. Eur J Neurol 2015; 22:211-214. 
  3. Roos P, Svenstrup K, Danielsen ER, Thomsen C, Nielsen JE. CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. Acta Neurol Scand 2014; 129:330-334.
  4. Schöls L, Rattay TW, Martus P, et al. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain 2017; 140:3112-3127. 
  5. Di Fabio R, Marcotulli C, Tessa A, et al. Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. J Neurol 2014; 261:747-751.  
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