Article
Genetics in hereditary spastic paraplegias: Essential but not enough.
Current opinion in neurobiology - 1 Feb 2022
Darios Frédéric, Coarelli Giulia, Durr Alexandra
Abstract excerpt
Hereditary spastic paraplegias consist of a group of rare neurodegenerative diseases characterized by lower limb spasticity. These inherited Mendelian disorders show high genetic variability associated with wide clinical diversity. Pathophysiological investigations have suggested that mutations in genes affecting the same cellular pathway generally lead to similar clinical symptoms, highlighting the importance of...
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