ArticleBalkan journal of medical genetics : BJMG2026
Progressive Supranuclear Palsy-Primary Lateral Sclerosis Overlap Syndrome in a Patient with a
Article in Balkan journal of medical genetics : BJMG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Progressive supranuclear palsy (PSP) is an atypical parkinsonian syndrome characterized by progressive axial rigidity, vertical gaze palsy, dysarthria, and dysphagia. This report describes a case of PSP-primary lateral sclerosis overlap syndrome associated with a Case: We describe the case of a 59-year-old male patient who presented with slowing of movements and hypophonic speech. Neurological examination revealed hypomimia, dysarthric and hypophonic speech, restricted upward gaze, slow saccadic eye movements, rigidity and bradykinesia in all extremities, axial rigidity, brisk deep tendon reflexes, bilateral positive Hoffman's sign, and bilateral extensor plantar responses. Brain MRI showed the "hummingbird sign" accompanied by bilateral cortico-spinal tract hyperintensity. MEP studies showed impaired excitability and conduction in the corticomotor system. Molecular genetic analysis identified a heterozygous G107A (c.320G>A; p.Gly107Asp) missense variant in the Conclusion: Based on these findings, a diagnosis of PSP-Primary Lateral Sclerosis overlap syndrome was made. The contribution of the identified
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