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

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...

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Detalles Bibliográficos
Autores principales: Theuriet, Julian, Pegat, Antoine, Leblanc, Pascal, Vukusic, Sandra, Cazeneuve, Cécile, Millecamps, Stéphanie, Banneau, Guillaume, Guillaud-Bataille, Marine, Bernard, Emilien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700784/
https://www.ncbi.nlm.nih.gov/pubmed/34946825
http://dx.doi.org/10.3390/genes12121876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700784/
https://www.ncbi.nlm.nih.gov/pubmed/34946825
http://dx.doi.org/10.3390/genes12121876

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