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.

Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation / I.J. Keller Sarmiento, A. Fraint, L. Kinsley, R.S. Akhtar, V. Silani, S.J. Lubbe, D. Krainc, N.E. Mencacci. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1873-5126. - 105:(2022 Dec), pp. 7-8. [10.1016/j.parkreldis.2022.10.022]

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

V. Silani;
2022

Abstract

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.
Deep brain stimulation; Generalized dystonia; Incomplete penetrance; Pathogenic variant; THAP1;
Settore MED/26 - Neurologia
22-ott-2022
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/945637
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