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Automated MR image analysis was used to compare volumetric properties. CSF of 33 probands was analysed for neurofilament light chain (NfL), tau, and amyloid-\u03b2 (A\u03b2).<\/jats:p><jats:p>Thirty participants turned out to be SPAST mutation carriers, whereas 26 did not inherit a SPAST mutation. Increased reflexes, ankle clonus, and hip abduction weakness were more frequent in prodromal mutation carriers but were also observed in non-mutation carriers. Only Babinski's sign differentiated reliably between the two groups. Timed walk and non-motor symptoms did not differ between groups. Whereas most mutation carriers had total SPRS scores of 2 points or more, only two non-mutation carriers reached more than 1 point. Motor evoked potentials revealed no differences between mutation and non-mutation carriers. We found NfL but not tau or A\u03b2 to rise in CSF of mutation carriers when approaching the time point of predicted disease manifestation. Serum NfL did not differ between groups. Volumetric MRI analyses did not reveal group differences apart from a smaller cingulate gyrus in mutation carriers.<\/jats:p><jats:p>This study depicts subtle clinical signs which develop before gait abnormalities in SPG4. Long-term follow-up is needed to study the evolution of SPG4 in the prodromal stage and conversion into manifest disease. NfL in CSF is a promising fluid biomarker that may indicate disease activity in prodromal SPG4 but needs further evaluation in longitudinal studies.<\/jats:p>","DOI":"10.1093\/brain\/awac155","type":"journal-article","created":{"date-parts":[[2022,4,26]],"date-time":"2022-04-26T03:21:12Z","timestamp":1650943272000},"page":"1093-1102","source":"Crossref","is-referenced-by-count":18,"title":["The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5456-7761","authenticated-orcid":false,"given":"Tim W","family":"Rattay","sequence":"first","affiliation":[{"name":"Center for Neurology and Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen , 72076 T\u00fcbingen , Germany"},{"name":"German Center of Neurodegenerative Diseases (DZNE) , T\u00fcbingen , Germany"},{"name":"Center for Rare Diseases (ZSE), University of T\u00fcbingen , T\u00fcbingen , 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