MovDisordV3, PubMed, Checkpoint, bibRecord, 001F85

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation.

Identifieur interne : 001F85 ( PubMed/Checkpoint ); précédent : 001F84; suivant : 001F86

A 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 ; Stephen Tisch ; Monica Holmberg ; Tommy A. Bergenheim ; Lars Forsgren

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.

RBID : pubmed:19890997

Descripteurs français

Wicri :
- geographic : Suède.

English descriptors

KwdEn :
- Adult, 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.
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.

DOI: 10.1002/mds.22842
PubMed: 19890997

Affiliations:

Suède

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Le document en format XML

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<author><name sortKey="Blomstedt, Patric" sort="Blomstedt, Patric" uniqKey="Blomstedt P" first="Patric" last="Blomstedt">Patric Blomstedt</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurosurgery, University Hospital of Northern Sweden, Umeå, Sweden. patric.blomstedt@neuro.umu.se</nlm:affiliation>
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<author><name sortKey="Tisch, Stephen" sort="Tisch, Stephen" uniqKey="Tisch S" first="Stephen" last="Tisch">Stephen Tisch</name>
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<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>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation.

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki