Universität zu Köln

Danielsson, Annika ORCID: 0000-0002-5626-7068, Carecchio, Miryam ORCID: 0000-0002-0755-5477, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Goran, Romito, Luigi ORCID: 0000-0002-6772-1035, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara ORCID: 0000-0002-7493-758X, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Goran and Tedroff, Kristina ORCID: 0000-0002-0456-8029 (2019). Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. J. Clin. Med., 8 (12). BASEL: MDPI. ISSN 2077-0383

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Abstract

Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking. In this retrospective, multicenter follow-up case series of medical records of such patients, the clinical outcome of pallidal deep brain stimulation in DYT-THAP1 dystonia, was evaluated. The Burke Fahn Marsden Dystonia Rating Scale served as an outcome measure. Nine females and 5 males were enrolled, with a median follow-up of 4 years and 10 months after implant. All benefited from surgery: dystonia severity was reduced by a median of 58% (IQR 31-62, p = 0.001) at last follow-up, as assessed by the Burke Fahn Marsden movement subscale. In the majority of individuals, there was no improvement of speech or swallowing, and overall, the effect was greater in the trunk and limbs as compared to the cranio-cervical and orolaryngeal regions. No correlation was found between disease duration before surgery, age at surgery, or preoperative disease burden and the outcome of deep brain stimulation. Device- and therapy-related side-effects were few. Accordingly, pallidal deep brain stimulation should be considered in clinically impairing and pharmaco-resistant DYT-THAP1 dystonia. The method is safe and effective, both short- and long-term.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Danielsson, Annika UNSPECIFIED orcid.org/0000-0002-5626-7068 UNSPECIFIED Carecchio, Miryam UNSPECIFIED orcid.org/0000-0002-0755-5477 UNSPECIFIED Cif, Laura UNSPECIFIED UNSPECIFIED UNSPECIFIED Koy, Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Lin, Jean-Pierre UNSPECIFIED UNSPECIFIED UNSPECIFIED Solders, Goran UNSPECIFIED UNSPECIFIED UNSPECIFIED Romito, Luigi UNSPECIFIED orcid.org/0000-0002-6772-1035 UNSPECIFIED Lohmann, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Garavaglia, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Reale, Chiara UNSPECIFIED orcid.org/0000-0002-7493-758X UNSPECIFIED Zorzi, Giovanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Nardocci, Nardo UNSPECIFIED UNSPECIFIED UNSPECIFIED Coubes, Philippe UNSPECIFIED UNSPECIFIED UNSPECIFIED Gonzalez, Victoria UNSPECIFIED UNSPECIFIED UNSPECIFIED Roubertie, Agathe UNSPECIFIED UNSPECIFIED UNSPECIFIED Collod-Beroud, Gwenaelle UNSPECIFIED UNSPECIFIED UNSPECIFIED Lind, Goran UNSPECIFIED UNSPECIFIED UNSPECIFIED Tedroff, Kristina UNSPECIFIED orcid.org/0000-0002-0456-8029 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-125467
DOI:	10.3390/jcm8122163
Journal or Publication Title:	J. Clin. Med.
Volume:	8
Number:	12
Date:	2019
Publisher:	MDPI
Place of Publication:	BASEL
ISSN:	2077-0383
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRIMARY GENERALIZED DYSTONIA; FOLLOW-UP; TORSION DYSTONIA; GENE; MUTATIONS; PHENOTYPE; FAILURE; DBS Multiple languages Medicine, General & Internal Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12546