Long-term follow-up of subthalamic nucleus stimulation in glucocerebrosidase-associated Parkinson's disease
| Autor: | Daniel Weiss, Christoph Meisner, Thomas Gasser, Rejko Krüger, Alireza Gharabaghi, Daniela Berg, Ann-Kathrin Hauser, Christian Plewnia, Rosa Klotz, Tobias Wächter, Kathrin Brockmann, Karin Srulijes, Sorin Breit, Sophia Reinbold, Claudia Schulte |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
therapy [Parkinson Disease] medicine.medical_specialty Pathology Neurology Parkinson's disease DNA Mutational Analysis genetics [Mutation] Stimulation Electric Stimulation Therapy Disease Biology medicine.disease_cause Severity of Illness Index genetics [Glucosylceramidase] physiology [Subthalamic Nucleus] genetics [Parkinson Disease] Subthalamic Nucleus Internal medicine Severity of illness medicine Dementia Humans ddc:610 metabolism [Glucosylceramidase] Longitudinal Studies Retrospective Studies Mutation Parkinson Disease Middle Aged methods [Electric Stimulation Therapy] medicine.disease Endocrinology Glucosylceramidase Female Neurology (clinical) enzymology [Parkinson Disease] Glucocerebrosidase |
| Zdroj: | Journal of neurology 259(9), 1970-1972 (2012). doi:10.1007/s00415-012-6469-7 |
| ISSN: | 1432-1459 |
| DOI: | 10.1007/s00415-012-6469-7 |
| Popis: | Dear Sirs,Heterozygous mutations in the gene encoding the lyso-somal enzyme beta-glucocerebrosidase (GBA) are associ-ated with an increased susceptibility to Parkinson’s disease(PD) and dementia with Lewy body disease [1, 2] and somecases with phenotypes similar to multiple system atrophywere reported [3]. GBA mutation carriers generally presentwith an earlier age at onset and particularly severe motor[2, 5] and non-motor [6] genotype-phenotype relationsprobably reflecting the more pronounced neocortical Lewybody-type pathology in GBA-associated PD [4]. Therefore,these were predicted to show an unfavorable therapeuticoutcome from Deep-brain stimulation of the subthalamicnucleus (STN-DBS). Here, we provide the first quantitativedata on the therapeutic outcomes of GBA-associated PD inresponse to |
| Databáze: | OpenAIRE |
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