PSEN1 Mutation Presenting as Isolated Hereditary Spastic Paraplegia (P5-9.018)

Jessica Joyce; Richard Dineen; Ryan Jacobson

doi:10.1212/wnl.0000000000213009

June 9, 2026Neurology

PSEN1 Mutation Presenting as Isolated Hereditary Spastic Paraplegia (P5-9.018)

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Key Points

The aim is to highlight the association between PSEN1 mutations and hereditary spastic paraplegia.
Detailed clinical evaluation of a patient presenting with myelopathy
Genetic testing to identify mutations in the PSEN1 gene
Identification of a pathogenic mutation in the PSEN1 gene
Confirmation that the mutation is linked to the patient's presentation of hereditary spastic paraplegia

Implication

Case report describes a pathogenic mutation in PSEN1 causing myelopathy in a patient with hereditary spastic paraplegia, indicating a genetic link.

Abstract

This case describes a patient who presented with myelopathy concerning for hereditary spastic paraplegia (HSP) and was found to have a pathogenic mutation in PSEN1.

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Cite This Study

Joyce et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf32afaef96ed7f055b4c https://doi.org/10.1212/wnl.0000000000213009

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PSEN1 Mutation Presenting as Isolated Hereditary Spastic Paraplegia (P5-9.018)

Key Points

Implication

Abstract

Discussion

Cite This Study

PSEN1 Mutation Presenting as Isolated Hereditary Spastic Paraplegia (P5-9.018)

Key Points

Implication

Abstract

Discussion

Cite This Study

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