4.5 Article

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

Journal

PARKINSONISM & RELATED DISORDERS
Volume 105, Issue -, Pages 7-8

Publisher

ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2022.10.022

Keywords

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

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We report a case of young onset generalized dystonia with a previously unreported likely pathogenic THAP1 gene mutation, which was inherited from the unaffected father. Additionally, deep brain stimulation was found to have a positive effect on the cervical symptoms of dystonia.
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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