A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation
Identifieur interne : 000C73 ( PascalFrancis/Corpus ); précédent : 000C72; suivant : 000C74A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation
Auteurs : Patric Blomstedt ; Marwan I. Hariz ; Stephen Tisch ; Monica Holmberg ; Tommy A. Bergenheim ; Lars ForsgrenSource :
- Movement disorders [ 0885-3185 ] ; 2009.
Descripteurs français
- Pascal (Inist)
English descriptors
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.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
pA |
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Format Inist (serveur)
NO : | PASCAL 10-0071239 INIST |
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ET : | A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation |
AU : | BLOMSTEDT (Patric); HARIZ (Marwan I.); TISCH (Stephen); HOLMBERG (Monica); BERGENHEIM (Tommy A.); FORSGREN (Lars) |
AF : | Department of Neurosurgery, University Hospital of Northern Sweden/Umeå/Suède (1 aut., 2 aut., 5 aut.); Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.); Department of Neurology, St Vincent's Hospital/Sydney/Australie (3 aut.); Department of Medical BioscienceslUnit for Medical and Clinical Genetics, Umeå University/Umeå/Suède (4 aut.); Department of Neurology, University Hospital of Northern Sweden/Umeå/Suède (6 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2415-2419; Bibl. 22 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17H |
FD : | Dystonie; Pathologie du système nerveux; Torsion; Suède; Traitement; Stimulation cérébrale profonde |
FG : | Europe; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central |
ED : | Dystonia; Nervous system diseases; Torsion; Sweden; Treatment; Deep brain stimulation |
EG : | Europe; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease |
SD : | Distonía; Sistema nervioso patología; Torsión; Suecia; Tratamiento |
LO : | INIST-20953.354000190005540170 |
ID : | 10-0071239 |
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Pascal:10-0071239Le document en format XML
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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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<server><NO>PASCAL 10-0071239 INIST</NO>
<ET>A Family with a Hereditary Form of Torsion Dystonia from Northern Sweden Treated with Bilateral Pallidal Deep Brain Stimulation</ET>
<AU>BLOMSTEDT (Patric); HARIZ (Marwan I.); TISCH (Stephen); HOLMBERG (Monica); BERGENHEIM (Tommy A.); FORSGREN (Lars)</AU>
<AF>Department of Neurosurgery, University Hospital of Northern Sweden/Umeå/Suède (1 aut., 2 aut., 5 aut.); Institute of Neurology, Queen Square/London/Royaume-Uni (2 aut.); Department of Neurology, St Vincent's Hospital/Sydney/Australie (3 aut.); Department of Medical BioscienceslUnit for Medical and Clinical Genetics, Umeå University/Umeå/Suède (4 aut.); Department of Neurology, University Hospital of Northern Sweden/Umeå/Suède (6 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 16; Pp. 2415-2419; Bibl. 22 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Pathologie du système nerveux; Torsion; Suède; Traitement; Stimulation cérébrale profonde</FD>
<FG>Europe; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie du système nerveux central</FG>
<ED>Dystonia; Nervous system diseases; Torsion; Sweden; Treatment; Deep brain stimulation</ED>
<EG>Europe; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Central nervous system disease</EG>
<SD>Distonía; Sistema nervioso patología; Torsión; Suecia; Tratamiento</SD>
<LO>INIST-20953.354000190005540170</LO>
<ID>10-0071239</ID>
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