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Early-onset parkinsonism and hereditary spastic paraplegia type 7: pearls and pitfalls
Oliver Phillips1, Alexa M Amato1, Hubert H Fernandez1
1Cleveland Clinic Center for Neurological Restoration, 9500 Euclid Avenue, Cleveland, OH, 44195, United States.
Abstract:
We describe a case with co-occurring SPG7 and GBA mutations in a patient presenting with early-onset asymmetric parkinsonism with levodopa-induced dyskinesias and dystonia who underwent pallidal deep brain stimulation and developed spastic paraparesis. This case highlights diagnostic and management challenges in individuals with unusual or misleading presentations of rare genetic conditions.
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