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A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation
Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Neurosurgery.
Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Neurosurgery.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
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2009 (English)In: Movement Disorders, ISSN 0885-3185, E-ISSN 1531-8257, Vol. 24, no 16, 2415-2419 p.Article in journal (Refereed) Published
Abstract [en]

To evaluate pallidal DBS in a non-DYT1 form of hereditary dystonia. We present the results of pallidal DBS in a family with non-DYT1 dystonia where DYT5 to 17 was excluded. The dystonia is following an autosomal dominant pattern. Ten members had definite dystonia and five had dystonia with minor symptoms. Four patients received bilateral pallidal DBS. Mean age was 47 years. The patients were evaluated before surgery, and "on" stimulation after a mean of 2.5 years (range 1-3) using the Burke-Fahn-Marsden scale (BFM). Mean BFM score decreased by 79 % on stimulation, from 42.5 +/- 24 to 9 +/- 6.5 at the last evaluation. Cervical involvement improved by 89%. The 2 patients with oromandibular dystonia and blepharospasm demonstrated a reduction of 95% regarding these symptoms. The present study confirms the effectiveness of pallidal DBS in a new family with hereditary primary segmental and generalized dystonia.

Place, publisher, year, edition, pages
2009. Vol. 24, no 16, 2415-2419 p.
National Category
Neurology
Identifiers
URN: urn:nbn:se:umu:diva-34696DOI: 10.1002/mds.22842ISI: 000273440200017PubMedID: 19890997OAI: oai:DiVA.org:umu-34696DiVA: diva2:323869
Available from: 2010-06-12 Created: 2010-06-12 Last updated: 2017-12-12Bibliographically approved

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Blomstedt, PatricHariz, Marwan IHolmberg, MonicaBergenheim, Tommy AForsgren, Lars
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