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Updated: May 12, 2026

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
Published on: June 18, 2018
Spastic paraparesis linked to a rare presenilin-1 mutation
Catarina Teles1, João Durães1,2,3, Pedro Faustino1
1Neurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.
None:
Familial Alzheimer's disease (FAD) accounts for < 1% of AD cases and is mainly associated with pathogenic variations in presenilin 1 (PSEN1), PSEN2 and the amyloid precursor protein [1]. Most patients present with an earlier onset classic amnestic syndrome [2]. We report a 37-year-old female with progressive spastic paraparesis (SP), wheelchair-dependent at 40-years-old and bedridden at 43yo. She developed mild cognitive complaints at 41yo. Multigene panel revealed a rare probably pathogenic heterozygous PSEN1 variant (p.Pro433Ser). CSF was consistent with pathological Alzheimer continuum. This highlights the importance of considering AD in SP of undetermined cause, showing a novel clinical association between PSEN1 p.Pro433Ser and SP.
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