Hereditary spastic paraplegia type 5 (SPG5)

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

Hereditary spastic paraplegia type 5 (SPG5). This is caused by mutations in the CYP7B1 gene on chromosome 8q. Fully referenced neurology checklist.

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

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Investigations

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Potential treatment

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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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