Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with <i>CYP7B1</i> Compound Heterozygous Mutations

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with <i>CYP7B1</i> Compound Heterozygous Mutations

Biallelic mutations in the <i>CYP7B1</i> gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral sclerosis/frontotemporal dementi...

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Bibliographic Details
Main Authors: Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
hereditary spastic paraplegia
amyotrophic lateral sclerosis
SPG5
frontotemporal dementia
ALS/FTD
<i>CYP7B1</i>
Online Access:https://www.mdpi.com/2073-4425/12/12/1876

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https://www.mdpi.com/2073-4425/12/12/1876

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