Article
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2022
Mo Alisa, Saffari Afshin, Kellner Melanie, Döbler-Neumann Marion, Jordan Catherine, Srivastava Siddharth, Zhang Bo, Sahin Mustafa, Fink John K, Smith Linsley, Posey Jennifer E, Alter Katharine E, Toro Camilo, Blackstone Craig, Soldatos Ariane G, Christie Michelle, Schüle Rebecca, Ebrahimi-Fakhari Darius
Abstract excerpt
BACKGROUND: Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype. OBJECTIVE: The aim of this study was to delineate the genotypic and phenotypic spectrum of children with de novo HSP-SPAST. METHODS: This study used a systematic cross-sectional analysis of clinical and molecular features. RESULTS: We report the clinical and molecular spectrum of 40 patients with...
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