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.File | Dimensione | Formato | |
---|---|---|---|
Keller Sarmiento I.J. PDism Rel Dis 2022.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
292.79 kB
Formato
Adobe PDF
|
292.79 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.