Summary
Hereditary spastic paraplegia (HSP) is a heterogenous condition characterized by lower extremity weakness and spasticity. For many patients, the genetic etiology remains undetermined, and few studies have evaluated the yield of broad genetic testing in a large cohort of patients presenting with HSP. In a retrospective review of 533 individuals with suspected HSP who received the Blueprint Genetics Spastic Paraplegia panel, we found:
- 3% of individuals had an informative test result
- Results were reported in 25 different genes with variants in SPAST identified most frequently
- Copy number variants (CNV) accounted for 11.3% of informative results
These findings underscore the importance of utilizing comprehensive panels, including CNV detection, when offering genetic testing to patients with a clinical diagnosis of HSP.
Authors:
Allison Sluyters, Kirsi Alakurtti, Mònica Segura Castell, Åsa Hagström, Heli Kuisma, Eija Seppälä, Kim Gall, Julie Hathaway, Alicia Scocchia, Mikko Muona, Inka Saarinen, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo