High diagnostic yield and novel variants in very late-onset spasticity

Momen Almomen, Kristina Martens, Asfia Quadir, Carly Sabine Pontifex, Alexandra Hanson, Lawrence Korngut & Gerald Pfeffer
Hereditary spastic paraplegias (HSPs) are a diverse group of genetic conditions with variable severity and onset age. From a neurogenetic clinic, we identified 14 patients with very late-onset HSP, with symptoms starting after the age of 35. In this cohort, sequencing of known genetic causes was performed using clinically available HSP sequencing panels. We identified 4 patients with mutations in SPG7 and 3 patients with SPAST mutations, representing 50% of the cohort and indicating a...
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