Article
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Clinical genetics - 1 Feb 2012
Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo M G, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi M T
Abstract excerpt
Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-α-hydroxylase, CYP7B1, an enzyme implicated in the cholesterol metabolism. Mutations in CYP7B1 were found in both pure and complicated forms of the disease with a mutation frequency of 7.7% in pure recessive cases. The mutation frequency in complex forms, approximately 6.6%, is more controversial...
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