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Article

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Genes - 25 Nov 2021

Theuriet Julian, Pegat Antoine, Leblanc Pascal, Vukusic Sandra, Cazeneuve Cécile, Millecamps Stéphanie, Banneau Guillaume, Guillaud-Bataille Marine, Bernard Emilien

Abstract excerpt

Biallelic mutations in the CYP7B1 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 dementia (ALS/FTD) at the age of 67 years. Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations...

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Identifiers

PMID: 34946825
DOI: 10.3390/genes12121876
PMCID: PMC8700784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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