Phenoconversion from spastic paraplegia to als/ftd associated with cyp7b1 compound heterozygous mutations

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  • who: Julian Theuriet and colleagues from the Centre SLA Lyon, PWertheimer, Lyon, Lyon have published the Article: Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations, in the Journal: Genes 2021, 1876 of 29/Oct/2021
  • what: The authors report herein the case of 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. The authors report herein for the first time the occurrence of fatal ALS/FTD in a 67-year . . .

     

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