A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

Ana Teresa Antequera Guerra; André Travessa; José Paulo Monteiro

doi:10.1002/ccr3.70954

September 25, 2025Clinical Case ReportsOpen Access

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

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Key Points

Case reveals a novel AP4M1 variant linked to hereditary spastic paraplegia type 50, indicating its rarity.
The patient showed upper motor neuron dysfunction, which is crucial for accurate diagnosis.
Clinical history and imaging findings conflicted with typical patterns associated with cerebral palsy.
Considering genetic causes is vital when assessing patients with atypical presentations of neurological disorders.

Implication

Case report highlights a novel AP4M1 variant in hereditary spastic paraplegia, suggesting genetic links to cerebral palsy.

Abstract

We report a case of hereditary spastic paraplegia type 50, an extremely rare disease characterized by upper motor neuron dysfunction. This case underscores the importance of considering genetic etiologies in patients previously diagnosed with cerebral palsy, especially when clinical history, presentation, and imaging findings are inconsistent with typical brain injury patterns.

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Cite This Study

Guerra et al. (2025) studied this question.

synapsesocial.com/papers/68d7be70eebfec0fc52383be https://doi.org/10.1002/ccr3.70954

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A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

Key Points

Implication

Abstract

Discussion

Cite This Study

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature

Key Points

Implication

Abstract

Discussion

Cite This Study

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