Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
David C SchorlingHeike KölbelAndreas HentschelAstrid PechmannNancy MeyerBrunhilde WirthRoman Rombonull nullAlbert SickmannJanbernd KirschnerUlrike Schara-SchmidtHanns LochmüllerAndreas RoosPublished in: European journal of neurology (2022)
We identified a decline of cathepsin D levels in CSF samples of SMA patients under nusinersen treatment that was more pronounced in the group of "treatment responders" than in "nonresponders." We believe that our results indicate a suitability of cathepsin D levels as a possible biomarker in SMA also in older patients, in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients.