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Article

Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis.

Alzheimer's research & therapy - 30 Apr 2025

Jih Kang-Yang, Hsu Ting-Rong, Fuh Jong-Ling, Lee Tse-Hao, Lin Yung-Shuan, Fang Shih-Yu, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

BACKGROUND: Mutations in the presenilin 1 gene (PSEN1) are well-known causes of early-onset familial Alzheimer's disease, but they can also present with atypical phenotypes such as pure spastic paraparesis. This study aims to investigate the clinical and genetic features of PSEN1 variants in patients mainly manifested with hereditary spastic paraparesis (HSP)-like phenotypes. METHODS: Mutational analysis was...

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Identifiers

PMID: 40307832
DOI: 10.1186/s13195-025-01744-4
PMCID: PMC12042469

Genes

PSEN1

Variants

Provenance

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