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Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.

Parkinsonism & related disorders - 1 Dec 2022

Keller Sarmiento Ignacio J, Fraint Avram, Kinsley Lisa, Akhtar Rizwan S, Silani Vincenzo, Lubbe Steven J, Krainc Dimitri, Mencacci Niccolò E

Abstract excerpt

We describe a case of young onset generalized dystonia, harboring a previously unreported likely pathogenic THAP1 missense variant (c.109 G > A; p.Glu37Lys) that was inherited from her unaffected father. Moreover, we report a positive effect of deep brain stimulation, particularly on the cervical component of dystonia.

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PMID: 36323131
DOI: 10.1016/j.parkreldis.2022.10.022

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