ReviewNeurogenetics2026
Clinical characteristics of THAP1 related dystonia: a case report with phenotypic review.
Review in Neurogenetics, 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
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions resulting in abnormal movements and postures. DYT-THAP1 is one of the most frequent genetic causes of generalized dystonia and may present with characteristic clinical features that help guide diagnostic suspicion before molecular confirmation. We report a 58-year-old man who developed dysphagia and dysarthria at 22 years of age, followed by progressive dystonic posturing involving the upper limbs, face, neck, and lower limbs. Family history revealed a similar condition in his father. Neurological examination demonstrated generalized dystonia with marked cranio-cervical and bulbar involvement. Brain magnetic resonance imaging and extensive metabolic and autoimmune investigations were unremarkable. Given the clinical presentation and family history, a genetic etiology was suspected. A dystonia gene panel identified a variant in the THAP1 gene, NM_018105.3:c.108G > T (p.Trp36Cys), establishing the diagnosis. Cranio-cervical involvement and prominent bulbar symptoms may represent important clinical clues suggesting DYT-THAP1 in patients with generalized dystonia, highlighting the importance of careful phenotypic characterization.
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