Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorOLIVEIRA, Lais Machado de
dc.contributor.authorBARBOSA, Egberto Reis
dc.contributor.authorAQUINO, Camila Catherine
dc.contributor.authorMUNHOZ, Renato Puppi
dc.contributor.authorFASANO, Alfonso
dc.contributor.authorCURY, Rubens Gisbert
dc.date.accessioned2019-08-20T14:53:05Z
dc.date.available2019-08-20T14:53:05Z
dc.date.issued2019
dc.description.abstractBackground Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD), and careful selection of candidates is a key component of successful therapy. Although it is recognized that factors such as age, disease duration, and levodopa responsiveness can influence outcomes, it is unclear whether genetic background should also serve as a parameter. Objectives The aim of this systematic review is to explore studies that have evaluated DBS in patients with mutations in PD-related genes. Methods We performed a selective literature search for articles regarding the effects of DBS in autosomal dominant or recessive forms of PD or in PD patients with genetic risk factors. Data regarding changes in motor and nonmotor scores and the presence of adverse events after the stimulation were collected. Results A total of 25 studies were included in the systematic review, comprising 135 patients. In the shorter term, most patients showed marked or satisfactory response to subthalamic DBS, although leucine rich repeat kinase 2 carriers of R114G mutations had higher rates of unsatisfactory outcome. Longer term follow-up data were scarce but suggested that motor benefit is sustained. Patients with the glucosidase beta acid (GBA) mutation showed higher rates of cognitive decline after surgery. Motor outcome was scarce for pallidal DBS. Few adverse events were reported. Conclusions Subthalamic DBS results in positive outcomes in the short term in patients with Parkin, GBA, and leucine-rich repeat kinase 2 (non-R144G) mutations, although the small sample size limits the interpretation of our findings. Longer and larger cohorts of follow-up, with broader nonmotor symptom evaluations will be necessary to better customize DBS therapy in this population.eng
dc.description.indexPubMedeng
dc.identifier.citationMOVEMENT DISORDERS CLINICAL PRACTICE, v.6, n.5, p.359-368, 2019
dc.identifier.doi10.1002/mdc3.12795
dc.identifier.issn2330-1619
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/33243
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofMovement Disorders Clinical Practice
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright WILEYeng
dc.subjectdeep brain stimulationeng
dc.subjectgeneticseng
dc.subjectParkinson's diseaseeng
dc.subject.othersubthalamic nucleus stimulationeng
dc.subject.othernonmotor symptomseng
dc.subject.otherfollow-upeng
dc.subject.otherdeletioneng
dc.subject.other22q11.2eng
dc.subject.otherassociationeng
dc.subject.othergenotypeeng
dc.subject.wosClinical Neurologyeng
dc.titleDeep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Revieweng
dc.typearticleeng
dc.type.categoryrevieweng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.affiliation.countryCanadá
hcfmusp.affiliation.countryisoca
hcfmusp.author.externalAQUINO, Camila Catherine:McMaster Univ, Dept Hlth Res Methods Evidence & Impact, Hamilton, ON, Canada
hcfmusp.author.externalMUNHOZ, Renato Puppi:Univ Toronto, Toronto Western Hosp, Univ Hlth Network, Edmond J Safra Program Parkinsons Dis,Div Neurol, Toronto, ON, Canada; Krembil Brain Inst, Toronto, ON, Canada
hcfmusp.author.externalFASANO, Alfonso:Univ Toronto, Toronto Western Hosp, Univ Hlth Network, Edmond J Safra Program Parkinsons Dis,Div Neurol, Toronto, ON, Canada; Krembil Brain Inst, Toronto, ON, Canada
hcfmusp.citation.scopus37
hcfmusp.contributor.author-fmusphcLAIS MACHADO DE OLIVEIRA
hcfmusp.contributor.author-fmusphcEGBERTO REIS BARBOSA
hcfmusp.contributor.author-fmusphcRUBENS GISBERT CURY
hcfmusp.description.beginpage359
hcfmusp.description.endpage368
hcfmusp.description.issue5
hcfmusp.description.volume6
hcfmusp.origemWOS
hcfmusp.origem.pubmed31286005
hcfmusp.origem.scopus2-s2.0-85067508747
hcfmusp.origem.wosWOS:000472778500003
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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