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

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

Parkinsonism & Related Disorders（2022）

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摘要

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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关键词

THAP1,Generalized dystonia,Deep brain stimulation,Incomplete penetrance,Pathogenic variant

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