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Parkinson‐related genetics in patients treated with deep brain stimulation

Identifieur interne : 001149 ( Main/Corpus ); précédent : 001148; suivant : 001150

Parkinson‐related genetics in patients treated with deep brain stimulation

Auteurs : K. K. Johansen ; J. V. J Rgensen ; L. R. White ; M. J. Farrer ; J. O. Aasly

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RBID : ISTEX:5E26C7DB06F8E087DFB47F09C05BC1B4BCDEA71E

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Abstract

Johansen KK, Jørgensen JV, White LR, Farrer MJ, Aasly JO. Parkinson‐related genetics in patients treated with deep brain stimulation.
Acta Neurol Scand: 2011: 123: 201–206.
© 2010 John Wiley & Sons A/S. Objectives –  To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods –  A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results –  Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions –  In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.

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DOI: 10.1111/j.1600-0404.2010.01387.x

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ISTEX:5E26C7DB06F8E087DFB47F09C05BC1B4BCDEA71E

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Acta Neurol Scand: 2011: 123: 201–206.
© 2010 John Wiley & Sons A/S. Objectives –  To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods –  A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results –  Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions –  In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.</div>
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© 2010 John Wiley & Sons A/S. Objectives –  To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods –  A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results –  Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions –  In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.</abstract>
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Acta Neurol Scand: 2011: 123: 201–206.
© 2010 John Wiley & Sons A/S. Objectives –  To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods –  A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results –  Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions –  In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.</p>
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</creator>
<creator creatorRole="author" xml:id="cr5" affiliationRef="#a1 #a2">
<personName>
<givenNames>J. O.</givenNames>
<familyName>Aasly</familyName>
</personName>
</creator>
</creators>
<affiliationGroup>
<affiliation xml:id="a1" countryCode="NO">
<unparsedAffiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</unparsedAffiliation>
</affiliation>
<affiliation xml:id="a2" countryCode="NO">
<unparsedAffiliation>Department of Neurology, St Olav’s University Hospital, Trondheim, Norway</unparsedAffiliation>
</affiliation>
<affiliation xml:id="a3" countryCode="NO">
<unparsedAffiliation>Department of Neurosurgery, St Olav’s University Hospital, Trondheim, Norway</unparsedAffiliation>
</affiliation>
<affiliation xml:id="a4" countryCode="US">
<unparsedAffiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA</unparsedAffiliation>
</affiliation>
</affiliationGroup>
<keywordGroup xml:lang="en">
<keyword xml:id="k1">GPi</keyword>
<keyword xml:id="k2">
<i>LRRK2</i>
</keyword>
<keyword xml:id="k3">p.G2019S</keyword>
<keyword xml:id="k4">
<i>PRKN</i>
</keyword>
<keyword xml:id="k5">
<i>PINK1</i>
</keyword>
<keyword xml:id="k6">STN</keyword>
<keyword xml:id="k7">VIM</keyword>
</keywordGroup>
<abstractGroup>
<abstract type="main" xml:lang="en">
<p>Johansen KK, Jørgensen JV, White LR, Farrer MJ, Aasly JO. Parkinson‐related genetics in patients treated with deep brain stimulation.
Acta Neurol Scand: 2011: 123: 201–206.
© 2010 John Wiley & Sons A/S.</p>
<p>
<b>Objectives – </b>
To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery.</p>
<p>
<b>Material and methods – </b>
A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi).</p>
<p>
<b>Results – </b>
Mutations in
<i>LRRK2</i>
,
<i>PRKN</i>
, and
<i>PINK1</i>
were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without.</p>
<p>
<b>Conclusions – </b>
In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.</p>
</abstract>
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<title>Parkinson‐related genetics in patients treated with deep brain stimulation</title>
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<titleInfo type="abbreviated">
<title>Genetics in DBS patients</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en">
<title>Parkinson‐related genetics in patients treated with deep brain stimulation</title>
</titleInfo>
<name type="personal">
<namePart type="given">K. K.</namePart>
<namePart type="family">Johansen</namePart>
<affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation>
<affiliation>Department of Neurology, St Olav’s University Hospital, Trondheim, Norway</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">J. V.</namePart>
<namePart type="family">Jørgensen</namePart>
<affiliation>Department of Neurosurgery, St Olav’s University Hospital, Trondheim, Norway</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">L. R.</namePart>
<namePart type="family">White</namePart>
<affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation>
<affiliation>Department of Neurology, St Olav’s University Hospital, Trondheim, Norway</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">M. J.</namePart>
<namePart type="family">Farrer</namePart>
<affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">J. O.</namePart>
<namePart type="family">Aasly</namePart>
<affiliation>Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway</affiliation>
<affiliation>Department of Neurology, St Olav’s University Hospital, Trondheim, Norway</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
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<typeOfResource>text</typeOfResource>
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<publisher>Blackwell Publishing Ltd</publisher>
<place>
<placeTerm type="text">Oxford, UK</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2011-03</dateIssued>
<edition>Accepted for publication April 21, 2010</edition>
<copyrightDate encoding="w3cdtf">2011</copyrightDate>
</originInfo>
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<languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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</physicalDescription>
<abstract lang="en">Johansen KK, Jørgensen JV, White LR, Farrer MJ, Aasly JO. Parkinson‐related genetics in patients treated with deep brain stimulation.
Acta Neurol Scand: 2011: 123: 201–206.
© 2010 John Wiley & Sons A/S. Objectives –  To analyze the frequency of mutations associated with Parkinson’s disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. Material and methods –  A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic nucleus (STN), 21 ventrointermediate nucleus of thalamus (VIM), and two globus pallidus internus (GPi). Results –  Mutations in LRRK2, PRKN, and PINK1 were found: the first two of these being overrepresented in STN‐operated patients, but none being found in VIM‐operated patients. Clinical outcome of the surgery was similar in patients with mutations compared to those without. Conclusions –  In a consecutive PD population, patients treated with STN‐DBS are overrepresented for PD‐related mutations and they seem to benefit from DBS as well as patients without mutations.</abstract>
<subject lang="en">
<genre>Keywords</genre>
<topic>GPi</topic>
<topic>LRRK2</topic>
<topic>p.G2019S</topic>
<topic>PRKN</topic>
<topic>PINK1</topic>
<topic>STN</topic>
<topic>VIM</topic>
</subject>
<relatedItem type="host">
<titleInfo>
<title>Acta Neurologica Scandinavica</title>
</titleInfo>
<genre type="Journal">journal</genre>
<identifier type="ISSN">0001-6314</identifier>
<identifier type="eISSN">1600-0404</identifier>
<identifier type="DOI">10.1111/(ISSN)1600-0404</identifier>
<identifier type="PublisherID">ANE</identifier>
<part>
<date>2011</date>
<detail type="volume">
<caption>vol.</caption>
<number>123</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>3</number>
</detail>
<extent unit="pages">
<start>201</start>
<end>206</end>
<total>6</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">5E26C7DB06F8E087DFB47F09C05BC1B4BCDEA71E</identifier>
<identifier type="DOI">10.1111/j.1600-0404.2010.01387.x</identifier>
<identifier type="ArticleID">ANE1387</identifier>
<accessCondition type="use and reproduction" contentType="copyright">© 2010 John Wiley & Sons A/S</accessCondition>
<recordInfo>
<recordContentSource>WILEY</recordContentSource>
<recordOrigin>Blackwell Publishing Ltd</recordOrigin>
</recordInfo>
</mods>
</metadata>
<serie></serie>
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</record>

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