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Genetic stratification of motor and QoL outcomes in Parkinson's disease in the EARLYSTIM study.
Weiss, Daniel; Landoulsi, Zied; May, Patrick; Sharma, Manu; Schüpbach, Michael; You, Hana; Corvol, Jean Christophe; Paschen, Steffen; Helmers, Ann-Kristin; Barbe, Michael; Fink, Gereon; Kühn, Andrea A; Courbon, Christine Brefel; Wojtecki, Lars; Damier, Philippe; Fraix, Valerie; Houeto, Jean-Luc; Regis, Jean; Sixel-Döring, Friederike; Pinsker, Marcus O; Thobois, Stephane; Gharabaghi, Alireza; Stoker, Valerie; Timmermann, Lars; Schnitzler, Alfons; Krack, Paul; Vidailhet, Marie; Deuschl, Günther; Krüger, Rejko.
Afiliação
  • Weiss D; Centre for Neurology, Department for Neurodegenerative Disease, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. Electronic address: daniel.weiss@uni-tuebingen.de.
  • Landoulsi Z; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Sharma M; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.
  • Schüpbach M; Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre d'Investigation Clinique 1422, Institut du Cerveau et de la Moelle Epinière, Institut National de Santé et en Recherche Médicale, Assistance Publique Hôpitaux de Paris, France; Institute of Neurology, Konolfingen, Switzerland; Department o
  • You H; Department of Neurology, Inselspital University Hospital Bern and University of Bern, Switzerland.
  • Corvol JC; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, UMR 1127, Inserm 1127, CNRS7225, AP-HP, Department of Neurology, Salpetriere University Hospital, Paris, France.
  • Paschen S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de paris, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.
  • Helmers AK; Department of Neurology, UKSH, Kiel Campus Christian-Albrechts-University, Kiel, Germany.
  • Barbe M; Department of Neurosurgery, UKSH Kiel, Kiel Campus Christian-Albrechts-University, Kiel, Germany.
  • Fink G; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Cognitive Neuroscience, Institute of Neuroscience and Medicine, Research Centre Jülich, Germany.
  • Kühn AA; Department of Neurology, Charité-Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany.
  • Courbon CB; Department of Neurology, INSERM Unite 1214, University Hospital Toulouse, France.
  • Wojtecki L; Institute of Clinical Neuroscience and Medical Psychology, Department of Neurology, Medical Faculty, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
  • Damier P; CHU Nantes, INSERM, CIC1413, Hôpital Laënnec, Nantes, France.
  • Fraix V; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, 38000, Grenoble, France.
  • Houeto JL; Department of Neurology, INSERM, Univ. Limoges, CHU Limoges, IRD, U1094 Tropical Neuroepidemiology, Institute of Epidemiology and Tropical Neurology, GEIST, Limoges, France.
  • Regis J; Aix Marseille University Department of Functional Neurosurgery, CHU Timone, APHM, Marseille, France.
  • Sixel-Döring F; Paracelsus-Elena-Klinik Kassel, Kassel, Germany.
  • Pinsker MO; Division of Stereotactic and Functional Neurosurgery, University Medical Center, Freiburg, Freiburg, Germany.
  • Thobois S; Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, Centre Expert Parkinson, Bron, France, France; Université Lyon, Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Sud Charles Mérieux, Oullins, France.
  • Gharabaghi A; Institute for Neuromodulation and Neurotechnology, University of Tübingen, Tübingen, Germany.
  • Stoker V; Medtronic, Minneapolis, MN, USA.
  • Timmermann L; Department of Neurology, University Hospital Marburg, Marburg, Germany.
  • Schnitzler A; Department of Neurology, INSERM Unite 1214, University Hospital Toulouse, France.
  • Krack P; Department of Neurology, Bern University Hospital and University of Bern, Bern, Switzerland.
  • Vidailhet M; Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre d'Investigation Clinique 1422, Institut du Cerveau et de la Moelle Epinière, Institut National de Santé et en Recherche Médicale, Assistance Publique Hôpitaux de Paris, France; Institute of Neurology, Konolfingen, Switzerland; Department o
  • Deuschl G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Assistance Publique Hôpitaux de paris, Department of Neurology, Pitié-Salpêtrière Hospital, Paris, France.
  • Krüger R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg; Transversal Translational Medicine, Luxembourg Institute of Health, Strassen, Luxembourg; Parkinson Research Clinic, Centre Hospitalier de Luxembourg, Luxembourg.
Parkinsonism Relat Disord ; 103: 169-174, 2022 10.
Article em En | MEDLINE | ID: mdl-36117018
ABSTRACT

PURPOSE:

The decision for subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD) relies on clinical predictors. Whether genetic variables could predict favourable or unfavourable decisions is under investigation.

OBJECTIVE:

First, we aimed to reproduce the previous observation that SNCA rs356220 was associated with favourable STN-DBS motor response. In additional exploratory analyses, we studied if other PD risk and progression variants from the latest GWAS are associated with therapeutic outcome. Further, we evaluated the predictive value of polygenic risk scores.

METHODS:

We comprehensively genotyped patients from the EarlyStim cohort using NeuroChip, and assessed the clinico-genetic associations with longitudinal outcome parameters.

RESULTS:

The SNCA rs356220 variant did not predict UPDRS III outcomes. However, it was associated with quality of life improvement in secondary analyses. Several polymorphisms from previously identified GWAS hits predicted motor or quality of life outcomes in DBS patients. Polygenic risk scores did not predict any outcome parameter.

CONCLUSIONS:

Our findings support the hypothesis that different common genetic markers are associated with favourable quality of life outcomes of STN-DBS in PD. These findings can be the basis for further validation in larger and independent cohorts.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Núcleo Subtalâmico / Estimulação Encefálica Profunda Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Núcleo Subtalâmico / Estimulação Encefálica Profunda Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article