A family with a hereditary form of torsion dystonia from Northern Sweden treated with bilateral pallidal deep brain stimulation
Identifieur interne : 002D43 ( Main/Merge ); précédent : 002D42; suivant : 002D44A family with a hereditary form of torsion dystonia from Northern Sweden treated with bilateral pallidal deep brain stimulation
Auteurs : Patric Blomstedt [Suède] ; Marwan I. Hariz [Suède, Royaume-Uni] ; Stephen Tisch [Australie] ; Monica Holmberg [Suède] ; Tommy A. Bergenheim [Suède] ; Lars Forsgren [Suède]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-12-15.
Descripteurs français
- Wicri :
- geographic : Suède.
English descriptors
- KwdEn :
- Adult, DBS, Deep Brain Stimulation (methods), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (therapy), Family Health, Female, Globus Pallidus (physiology), Humans, Male, Middle Aged, Molecular Chaperones (genetics), Severity of Illness Index, Sweden, dystonia, pallidal stimulation.
- MESH :
- chemical , genetics : Molecular Chaperones.
- geographic : Sweden.
- genetics : Dystonia Musculorum Deformans.
- methods : Deep Brain Stimulation.
- physiology : Globus Pallidus.
- therapy : Dystonia Musculorum Deformans.
- Adult, Family Health, Female, Humans, Male, Middle Aged, Severity of Illness Index.
Abstract
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. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22842
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Sweden</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Globus Pallidus</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Severity of Illness Index</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Suède</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="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.</div>
</front>
</TEI>
</PubMed>
</double>
</record>
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