ParkinsonCanadaV1, PascalFrancis, Corpus, bibRecord, 000658

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism

Identifieur interne : 000658 ( PascalFrancis/Corpus ); précédent : 000657; suivant : 000659

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism

Auteurs : E. Moro ; J. Volkmann ; I. R. Konig ; S. Winkler ; A. Hiller ; S. Hassin-Baer ; J. Herzog ; A. Schnitzler ; K. Lohmann ; M. O. Pinsker ; J. Voges ; A. Djarmatic ; P. Seibler ; A. M. Lozano ; E. Rogaeva ; A. E. Lang ; G. Deuschl ; C. Klein

Source :

Neurology [ 0028-3878 ] ; 2008.

RBID : Pascal:08-0202409

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Pathologie du système nerveux, Parkine.

English descriptors

KwdEn :
- Nervous system diseases, Parkin, Parkinsonism.

Abstract

Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0028-3878`
A02	`01`			`@0 NEURAI`
A03		`1`		`@0 Neurology`
A05				`@2 70`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism`
A11	`01`	`1`		`@1 MORO (E.)`
A11	`02`	`1`		`@1 VOLKMANN (J.)`
A11	`03`	`1`		`@1 KONIG (I. R.)`
A11	`04`	`1`		`@1 WINKLER (S.)`
A11	`05`	`1`		`@1 HILLER (A.)`
A11	`06`	`1`		`@1 HASSIN-BAER (S.)`
A11	`07`	`1`		`@1 HERZOG (J.)`
A11	`08`	`1`		`@1 SCHNITZLER (A.)`
A11	`09`	`1`		`@1 LOHMANN (K.)`
A11	`10`	`1`		`@1 PINSKER (M. O.)`
A11	`11`	`1`		`@1 VOGES (J.)`
A11	`12`	`1`		`@1 DJARMATIC (A.)`
A11	`13`	`1`		`@1 SEIBLER (P.)`
A11	`14`	`1`		`@1 LOZANO (A. M.)`
A11	`15`	`1`		`@1 ROGAEVA (E.)`
A11	`16`	`1`		`@1 LANG (A. E.)`
A11	`17`	`1`		`@1 DEUSCHL (G.)`
A11	`18`	`1`		`@1 KLEIN (C.)`
A14	`01`			`@1 Movement Disorder Centre, Toronto Western Hospital, University of Toronto @2 Ontario @3 CAN @Z 1 aut. @Z 15 aut. @Z 16 aut. @Z 18 aut.`
A14	`02`			`@1 Department of Neurology, Christian-Albrechts-University Kiel @3 DEU @Z 2 aut. @Z 7 aut. @Z 17 aut.`
A14	`03`			`@1 Institute of Medical Biometry and Statistics, University of Lübeck @3 DEU @Z 3 aut.`
A14	`04`			`@1 Department of Neurology, University of Lübeck @3 DEU @Z 4 aut. @Z 5 aut. @Z 9 aut. @Z 12 aut. @Z 13 aut. @Z 18 aut.`
A14	`05`			`@1 Department of Human Genetics, University of Lübeck @3 DEU @Z 4 aut. @Z 9 aut. @Z 12 aut. @Z 13 aut. @Z 18 aut.`
A14	`06`			`@1 Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center @2 Tel-Hashomer @3 ISR @Z 6 aut.`
A14	`07`			`@1 Department of Neurology Heinrich-Heine-University @2 Dusseldorf @3 DEU @Z 8 aut.`
A14	`08`			`@1 Department of Neurosurgery, Christian-Albrechts-University Kiel @3 DEU @Z 10 aut.`
A14	`09`			`@1 Department of Stereotaxy and Functional Neurosurgery University of Cologne @3 DEU @Z 11 aut.`
A14	`10`			`@1 Department of Neurosurgery, Toronto Western Hospital, University of Toronto @2 Ontario @3 CAN @Z 14 aut.`
A20				`@1 1186-1191`
A21				`@1 2008`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 6345 @5 354000173711220060`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 28 ref.`
A47	`01`	`1`		`@0 08-0202409`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Neurology`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Parkine @5 09`
C03	`03`	`X`	`ENG`	`@0 Parkin @5 09`
C03	`03`	`X`	`SPA`	`@0 Parkin @5 09`
N21				`@1 126`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 08-0202409 INIST
ET :	Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
AU :	MORO (E.); VOLKMANN (J.); KONIG (I. R.); WINKLER (S.); HILLER (A.); HASSIN-BAER (S.); HERZOG (J.); SCHNITZLER (A.); LOHMANN (K.); PINSKER (M. O.); VOGES (J.); DJARMATIC (A.); SEIBLER (P.); LOZANO (A. M.); ROGAEVA (E.); LANG (A. E.); DEUSCHL (G.); KLEIN (C.)
AF :	Movement Disorder Centre, Toronto Western Hospital, University of Toronto/Ontario/Canada (1 aut., 15 aut., 16 aut., 18 aut.); Department of Neurology, Christian-Albrechts-University Kiel/Allemagne (2 aut., 7 aut., 17 aut.); Institute of Medical Biometry and Statistics, University of Lübeck/Allemagne (3 aut.); Department of Neurology, University of Lübeck/Allemagne (4 aut., 5 aut., 9 aut., 12 aut., 13 aut., 18 aut.); Department of Human Genetics, University of Lübeck/Allemagne (4 aut., 9 aut., 12 aut., 13 aut., 18 aut.); Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center/Tel-Hashomer/Israël (6 aut.); Department of Neurology Heinrich-Heine-University/Dusseldorf/Allemagne (8 aut.); Department of Neurosurgery, Christian-Albrechts-University Kiel/Allemagne (10 aut.); Department of Stereotaxy and Functional Neurosurgery University of Cologne/Allemagne (11 aut.); Department of Neurosurgery, Toronto Western Hospital, University of Toronto/Ontario/Canada (14 aut.)
DT :	Publication en série; Niveau analytique
SO :	Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2008; Vol. 70; No. 14; Pp. 1186-1191; Bibl. 28 ref.
LA :	Anglais
EA :	Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.
CC :	002B17; 002B17G
FD :	Parkinsonisme; Pathologie du système nerveux; Parkine
ED :	Parkinsonism; Nervous system diseases; Parkin
SD :	Parkinson síndrome; Sistema nervioso patología; Parkin
LO :	INIST-6345.354000173711220060
ID :	08-0202409

Links to Exploration step

Pascal:08-0202409

Le document en format XML

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<author><name sortKey="Lozano, A M" sort="Lozano, A M" uniqKey="Lozano A" first="A. M." last="Lozano">A. M. Lozano</name>
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<author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name>
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<author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism</title>
<author><name sortKey="Moro, E" sort="Moro, E" uniqKey="Moro E" first="E." last="Moro">E. Moro</name>
<affiliation><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
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</author>
<author><name sortKey="Volkmann, J" sort="Volkmann, J" uniqKey="Volkmann J" first="J." last="Volkmann">J. Volkmann</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1>
<s3>DEU</s3>
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<author><name sortKey="Konig, I R" sort="Konig, I R" uniqKey="Konig I" first="I. R." last="Konig">I. R. Konig</name>
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<author><name sortKey="Winkler, S" sort="Winkler, S" uniqKey="Winkler S" first="S." last="Winkler">S. Winkler</name>
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<s3>DEU</s3>
<sZ>4 aut.</sZ>
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<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
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<sZ>12 aut.</sZ>
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<author><name sortKey="Hiller, A" sort="Hiller, A" uniqKey="Hiller A" first="A." last="Hiller">A. Hiller</name>
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<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<author><name sortKey="Hassin Baer, S" sort="Hassin Baer, S" uniqKey="Hassin Baer S" first="S." last="Hassin-Baer">S. Hassin-Baer</name>
<affiliation><inist:fA14 i1="06"><s1>Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center</s1>
<s2>Tel-Hashomer</s2>
<s3>ISR</s3>
<sZ>6 aut.</sZ>
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<author><name sortKey="Herzog, J" sort="Herzog, J" uniqKey="Herzog J" first="J." last="Herzog">J. Herzog</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1>
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<author><name sortKey="Schnitzler, A" sort="Schnitzler, A" uniqKey="Schnitzler A" first="A." last="Schnitzler">A. Schnitzler</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurology Heinrich-Heine-University</s1>
<s2>Dusseldorf</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
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<author><name sortKey="Lohmann, K" sort="Lohmann, K" uniqKey="Lohmann K" first="K." last="Lohmann">K. Lohmann</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
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<affiliation><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
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</author>
<author><name sortKey="Pinsker, M O" sort="Pinsker, M O" uniqKey="Pinsker M" first="M. O." last="Pinsker">M. O. Pinsker</name>
<affiliation><inist:fA14 i1="08"><s1>Department of Neurosurgery, Christian-Albrechts-University Kiel</s1>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Voges, J" sort="Voges, J" uniqKey="Voges J" first="J." last="Voges">J. Voges</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Stereotaxy and Functional Neurosurgery University of Cologne</s1>
<s3>DEU</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Djarmatic, A" sort="Djarmatic, A" uniqKey="Djarmatic A" first="A." last="Djarmatic">A. Djarmatic</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
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<affiliation><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
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<sZ>13 aut.</sZ>
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<author><name sortKey="Seibler, P" sort="Seibler, P" uniqKey="Seibler P" first="P." last="Seibler">P. Seibler</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
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<affiliation><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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</author>
<author><name sortKey="Lozano, A M" sort="Lozano, A M" uniqKey="Lozano A" first="A. M." last="Lozano">A. M. Lozano</name>
<affiliation><inist:fA14 i1="10"><s1>Department of Neurosurgery, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name>
<affiliation><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Lang, A E" sort="Lang, A E" uniqKey="Lang A" first="A. E." last="Lang">A. E. Lang</name>
<affiliation><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G." last="Deuschl">G. Deuschl</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1>
<s3>DEU</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
<affiliation><inist:fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2008">2008</date>
</imprint>
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<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Pathologie du   système nerveux</term>
<term>Parkine</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.</div>
</front>
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<fA08 i1="01" i2="1" l="ENG"><s1>Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>MORO (E.)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>VOLKMANN (J.)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>KONIG (I. R.)</s1>
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<fA11 i1="17" i2="1"><s1>DEUSCHL (G.)</s1>
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<fA11 i1="18" i2="1"><s1>KLEIN (C.)</s1>
</fA11>
<fA14 i1="01"><s1>Movement Disorder Centre, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Neurology, Christian-Albrechts-University Kiel</s1>
<s3>DEU</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Institute of Medical Biometry and Statistics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Department of Neurology, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center</s1>
<s2>Tel-Hashomer</s2>
<s3>ISR</s3>
<sZ>6 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology Heinrich-Heine-University</s1>
<s2>Dusseldorf</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Department of Neurosurgery, Christian-Albrechts-University Kiel</s1>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Stereotaxy and Functional Neurosurgery University of Cologne</s1>
<s3>DEU</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>Department of Neurosurgery, Toronto Western Hospital, University of Toronto</s1>
<s2>Ontario</s2>
<s3>CAN</s3>
<sZ>14 aut.</sZ>
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<fA47 i1="01" i2="1"><s0>08-0202409</s0>
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<fC01 i1="01" l="ENG"><s0>Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.</s0>
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<server><NO>PASCAL 08-0202409 INIST</NO>
<ET>Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism</ET>
<AU>MORO (E.); VOLKMANN (J.); KONIG (I. R.); WINKLER (S.); HILLER (A.); HASSIN-BAER (S.); HERZOG (J.); SCHNITZLER (A.); LOHMANN (K.); PINSKER (M. O.); VOGES (J.); DJARMATIC (A.); SEIBLER (P.); LOZANO (A. M.); ROGAEVA (E.); LANG (A. E.); DEUSCHL (G.); KLEIN (C.)</AU>
<AF>Movement Disorder Centre, Toronto Western Hospital, University of Toronto/Ontario/Canada (1 aut., 15 aut., 16 aut., 18 aut.); Department of Neurology, Christian-Albrechts-University Kiel/Allemagne (2 aut., 7 aut., 17 aut.); Institute of Medical Biometry and Statistics, University of Lübeck/Allemagne (3 aut.); Department of Neurology, University of Lübeck/Allemagne (4 aut., 5 aut., 9 aut., 12 aut., 13 aut., 18 aut.); Department of Human Genetics, University of Lübeck/Allemagne (4 aut., 9 aut., 12 aut., 13 aut., 18 aut.); Sagol Neuroscience Center and Department of Neurology Chaim Sheba Medical Center/Tel-Hashomer/Israël (6 aut.); Department of Neurology Heinrich-Heine-University/Dusseldorf/Allemagne (8 aut.); Department of Neurosurgery, Christian-Albrechts-University Kiel/Allemagne (10 aut.); Department of Stereotaxy and Functional Neurosurgery University of Cologne/Allemagne (11 aut.); Department of Neurosurgery, Toronto Western Hospital, University of Toronto/Ontario/Canada (14 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Neurology; ISSN 0028-3878; Coden NEURAI; Etats-Unis; Da. 2008; Vol. 70; No. 14; Pp. 1186-1191; Bibl. 28 ref.</SO>
<LA>Anglais</LA>
<EA>Objectives: To study the frequency of different gene mutations in patients with early-onset parkinsonism and bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and the short- and long-term surgical outcome in mutation-positive (MUT+) and -negative (MUT-) patients. Methods: Eighty patients with disease onset at age ≤ 45 years and bilateral STN-DBS were screened for mutations in the Parkin gene and PINK1 gene and for the recurrent p.G2019S mutation in the LRRK2 gene. The Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) scale were used to compare the on- and off-medication conditions preoperatively and in the off-medication/on-stimulation condition postoperatively. Results: We identified 12 mutation carriers (11 Parkin [6 with 2 mutated alleles, 5 with 1 mutated allele], 1 homozygous PINK1). There were no clinical differences between the MUT- and MUT+ patients preoperatively, except for more severe H-Y stage and postural and gait scores in the on-medication state in the MUT+ group. During the first year after surgery, MUT- patients showed better clinical improvement (56% motor UPDRS improvement) compared with MUT+ patients (36%). However, in the long-term follow-up (3-6 years), both groups presented with the same degree of clinical improvement (MUT-: 44% vs MUT+: 42%). Although the MUT+ group showed more severe axial signs preoperatively, MUT- patients developed levodopa- and deep brain stimulation-resistant axial signs within the first 3 to 6 years postoperatively, which diminished the initial benefit soon after surgery. Conclusions: Patients with Parkin or PINK1 mutations benefit from subthalamic nucleus deep brain stimulation. However, the clinical response is not superior to non-mutation carriers and might be limited by more advanced axial motor symptoms at a relatively early disease stage.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Pathologie du   système nerveux; Parkine</FD>
<ED>Parkinsonism; Nervous system diseases; Parkin</ED>
<SD>Parkinson síndrome; Sistema nervioso patología; Parkin</SD>
<LO>INIST-6345.354000173711220060</LO>
<ID>08-0202409</ID>
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Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism

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