Article
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
Developmental medicine and child neurology - 1 Sept 2020
Schiavoni Silvia, Spagnoli Carlotta, Rizzi Susanna, Salerno Grazia G, Frattini Daniele, Pisani Francesco, Fusco Carlo
Abstract excerpt
AIM: To describe the clinical and neurogenetic spectrum of paediatric-onset hereditary spastic paraplegias (HSPs) diagnosed in our unit. METHOD: We report on 47 patients (30 males, 17 females; mean [SD] age 12y 7mo [6y 2mo], range 4-34y) clinically diagnosed with an HSP at the Child Neurology Unit, IRCCS-ASMN (Reggio Emilia, Italy) between 1990 and 2018, who were genetically investigated by means of single-gene...
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