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In this paper, we describe a family with a particularly young onset of spastic paraparesis due to a novel mutation in PSEN1 (F388S). Three affected brothers underwent comprehensive imaging protocols, two underwent ophthalmological evaluations and one underwent neuropathological examination after his death at age 29. Age of onset was consistently at age 23 with spastic paraparesis, dysarthria and bradyphrenia. Pseudobulbar affect followed with progressive gait problems leading to loss of ambulation in the late 20s. Cerebrospinal fluid levels of amyloid-\u03b2, tau and phosphorylated tau and florbetaben PET were consistent with Alzheimer\u2019s disease. Flortaucipir PET showed an uptake pattern atypical for Alzheimer\u2019s disease, with disproportionate signal in posterior brain areas. Diffusion tensor imaging showed decreased mean diffusivity in widespread areas of white matter but particularly in areas underlying the peri-Rolandic cortex and in the corticospinal tracts. These changes were more severe than those found in carriers of another PSEN1 mutation, which can cause spastic paraparesis at a later age (A431E), which were in turn more severe than among persons carrying autosomal dominant Alzheimer\u2019s disease mutations not causing spastic paraparesis. Neuropathological examination confirmed the presence of cotton wool plaques previously described in association with spastic parapresis and pallor and microgliosis in the corticospinal tract with severe amyloid-\u03b2 pathology in motor cortex but without unequivocal disproportionate neuronal loss or tau pathology. In vitro modelling of the effects of the mutation demonstrated increased production of longer length amyloid-\u03b2 peptides relative to shorter that predicted the young age of onset. In this paper, we provide imaging and neuropathological characterization of an extreme form of spastic paraparesis occurring in association with autosomal dominant Alzheimer\u2019s disease, demonstrating robust diffusion and pathological abnormalities in white matter. That the amyloid-\u03b2 profiles produced predicted the young age of onset suggests an amyloid-driven aetiology though the link between this and the white matter pathology remains undefined.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad030","type":"journal-article","created":{"date-parts":[[2023,2,13]],"date-time":"2023-02-13T23:38:12Z","timestamp":1676331492000},"source":"Crossref","is-referenced-by-count":11,"title":["Characterization of spastic paraplegia in a family with a novel<i>PSEN1<\/i>mutation"],"prefix":"10.1093","volume":"5","author":[{"given":"John M","family":"Ringman","sequence":"first","affiliation":[{"name":"Department of Neurology, Keck School of Medicine at University of Southern California , Los Angeles, CA 90033 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naghmeh","family":"Dorrani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UCLA , Los Angeles, CA 90095 , 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