Early presentation of spastic paraparesis in individuals carrying PSEN1 mutations: a clinical and genetic analysis
Abstract 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...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-04-01
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| Series: | Alzheimer’s Research & Therapy |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13195-025-01744-4 |
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