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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...
Background and purpose
The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision‐making remains challenging, underlining the persistent need for validated biomarkers.
Methods
We applied untargeted proteomic analyses to determine biomarkers in cerebrospinal fluid...