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A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature
Ana Teresa Guerra1, André M Travessa2, José Paulo Monteiro3
1Pediatrics Service, Child and Youth Department Hospital Professor Doutor Fernando Fonseca Lisboa Portugal.
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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