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• W2155514169 abstract "The SPG5A subtype of Hereditary Spastic Paraplegia (HSP) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the CYP7B1 gene, which encodes a steroid cytochrome P450 7α-hydroxylase. This enzyme provides the primary metabolic route for neurosteroids. Clinically, SPG5A has been characterized as a pure form of HSP with a variable age of onset, but recently a broader spectrum of phenotypes has been described. Objective This study characterizes four unrelated SPG5A patients through clinical evaluation. Methods The investigations included blood biochemistry, electrophysiology, brain MRI and MR spectroscopy. Results One patient had saccadic pursuit eye movements in addition to a pure HSP phenotype. Motor evoked potential (MEP) examinations revealed prolonged central conduction time. MRI of the brain showed white matter hyperintensities (WMH) in one patient. MRS showed elevated mI/Cr ratio in white matter in two patients; in the one patient with WMH and in one patient with normal MRI. Four novel mutations were identified; one frameshift (c.509 delT p.L170fs), one premature stop codon (c.334 C>T p.R112X), one amino acid changing (c.440 G>A p.G147D) and one duplication (c.945_947 dupGGC p.A316AA). Conclusion SPG5A could be characterized as a predominantly pure HSP. MRS showing elevated mI/Cr ratio in the white matter may be indicative of SPG5A." @default.
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• W2155514169 date "2013-10-01" @default.
• W2155514169 modified "2023-10-01" @default.
• W2155514169 title "<i>CYP7B1</i>: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A" @default.
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• W2155514169 doi "https://doi.org/10.1111/ane.12188" @default.
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