Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease
Identifieur interne : 002395 ( Main/Corpus ); précédent : 002394; suivant : 002396Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease
Auteurs : J. Gierthmühlen ; F. Lienau ; R. Maag ; J M Hagenah ; G. Deuschl ; E. Fritzer ; C. Klein ; R. Baron ; C. HelmchenSource :
- Journal of Neurology, Neurosurgery & Psychiatry [ 0022-3050 ] ; 2009-05.
Abstract
Background: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. Objective: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. Methods: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). Results: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. Conclusions: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.
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DOI: 10.1136/jnnp.2008.158659
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease</title><author><name sortKey="Gierthmuhlen, J" sort="Gierthmuhlen, J" uniqKey="Gierthmuhlen J" first="J" last="Gierthmühlen">J. Gierthmühlen</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lienau, F" sort="Lienau, F" uniqKey="Lienau F" first="F" last="Lienau">F. Lienau</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Maag, R" sort="Maag, R" uniqKey="Maag R" first="R" last="Maag">R. Maag</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, J M" sort="Hagenah, J M" uniqKey="Hagenah J" first="J M" last="Hagenah">J M Hagenah</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G" last="Deuschl">G. Deuschl</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Fritzer, E" sort="Fritzer, E" uniqKey="Fritzer E" first="E" last="Fritzer">E. Fritzer</name><affiliation><mods:affiliation>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Baron, R" sort="Baron, R" uniqKey="Baron R" first="R" last="Baron">R. Baron</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Helmchen, C" sort="Helmchen, C" uniqKey="Helmchen C" first="C" last="Helmchen">C. 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Gierthmühlen</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lienau, F" sort="Lienau, F" uniqKey="Lienau F" first="F" last="Lienau">F. Lienau</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Maag, R" sort="Maag, R" uniqKey="Maag R" first="R" last="Maag">R. Maag</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, J M" sort="Hagenah, J M" uniqKey="Hagenah J" first="J M" last="Hagenah">J M Hagenah</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Deuschl, G" sort="Deuschl, G" uniqKey="Deuschl G" first="G" last="Deuschl">G. Deuschl</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Fritzer, E" sort="Fritzer, E" uniqKey="Fritzer E" first="E" last="Fritzer">E. Fritzer</name><affiliation><mods:affiliation>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C" last="Klein">C. Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Baron, R" sort="Baron, R" uniqKey="Baron R" first="R" last="Baron">R. Baron</name><affiliation><mods:affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Helmchen, C" sort="Helmchen, C" uniqKey="Helmchen C" first="C" last="Helmchen">C. Helmchen</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Neurology, Neurosurgery & Psychiatry</title><title level="j" type="abbrev">J Neurol Neurosurg Psychiatry</title><idno type="ISSN">0022-3050</idno><idno type="eISSN">1468-330X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2009-05">2009-05</date><biblScope unit="volume">80</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="571">571</biblScope></imprint><idno type="ISSN">0022-3050</idno></series><idno type="istex">6C46BC93283072D9A9ED2819481AFB5229FB92D5</idno><idno type="DOI">10.1136/jnnp.2008.158659</idno><idno type="href">jnnp-80-571.pdf</idno><idno type="ArticleID">jn158659</idno><idno type="PMID">19372294</idno><idno type="local">jnnp;80/5/571</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-3050</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. Objective: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. Methods: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). Results: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. Conclusions: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.</div></front></TEI><istex><corpusName>bmj</corpusName><author><json:item><name>J Gierthmühlen</name><affiliations><json:string>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</json:string></affiliations></json:item><json:item><name>F Lienau</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>R Maag</name><affiliations><json:string>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</json:string></affiliations></json:item><json:item><name>J M Hagenah</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>G Deuschl</name><affiliations><json:string>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</json:string></affiliations></json:item><json:item><name>E Fritzer</name><affiliations><json:string>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</json:string></affiliations></json:item><json:item><name>C Klein</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>R Baron</name><affiliations><json:string>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</json:string></affiliations></json:item><json:item><name>C Helmchen</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Short reports</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Drugs: CNS (not psychiatric)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Pain (neurology)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. Objective: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. Methods: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). Results: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. Conclusions: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.</abstract><qualityIndicators><score>4.523</score><pdfVersion>1.2</pdfVersion><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>4</keywordCount><abstractCharCount>1335</abstractCharCount><pdfWordCount>2279</pdfWordCount><pdfCharCount>15682</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>187</abstractWordCount></qualityIndicators><title>Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson 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type="first">R</forename><surname>Maag</surname></persName><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation></author><author><persName><forename type="first">J M</forename><surname>Hagenah</surname></persName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">G</forename><surname>Deuschl</surname></persName><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation></author><author><persName><forename type="first">E</forename><surname>Fritzer</surname></persName><affiliation>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</affiliation></author><author><persName><forename type="first">C</forename><surname>Klein</surname></persName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">R</forename><surname>Baron</surname></persName><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation></author><author><persName><forename type="first">C</forename><surname>Helmchen</surname></persName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation></author></analytic><monogr><title level="j">Journal of Neurology, Neurosurgery & Psychiatry</title><title level="j" type="abbrev">J Neurol Neurosurg Psychiatry</title><idno type="pISSN">0022-3050</idno><idno type="eISSN">1468-330X</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2009-05"></date><biblScope unit="volume">80</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="571">571</biblScope></imprint></monogr><idno type="istex">6C46BC93283072D9A9ED2819481AFB5229FB92D5</idno><idno type="DOI">10.1136/jnnp.2008.158659</idno><idno type="href">jnnp-80-571.pdf</idno><idno type="ArticleID">jn158659</idno><idno type="PMID">19372294</idno><idno type="local">jnnp;80/5/571</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009-04-16</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Background: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. Objective: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. Methods: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). Results: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. Conclusions: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Drugs: CNS (not psychiatric)</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Pain (neurology)</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Parkinson's disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-04-16">Created</change><change when="2009-05">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-14">References 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abbrev-type="publisher">J Neurol Neurosurg Psychiatry</abbrev-journal-title><issn pub-type="ppub">0022-3050</issn><issn pub-type="epub">1468-330X</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">jn158659</article-id><article-id pub-id-type="doi">10.1136/jnnp.2008.158659</article-id><article-id pub-id-type="other">jnnp;80/5/571</article-id><article-id pub-id-type="pmid">19372294</article-id><article-id pub-id-type="other">571</article-id><article-id pub-id-type="other">jnnp.2008.158659</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Short reports</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Drugs: CNS (not psychiatric)</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Pain (neurology)</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Parkinson's disease</subject></subj-group></article-categories><title-group><article-title>Somatosensory processing in a German family with <italic>PINK1</italic> mutations: its potential role in Parkinson disease</article-title><alt-title alt-title-type="running-head">Short report</alt-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Gierthmühlen</surname><given-names>J</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Lienau</surname><given-names>F</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Maag</surname><given-names>R</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Hagenah</surname><given-names>J M</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Deuschl</surname><given-names>G</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Fritzer</surname><given-names>E</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Klein</surname><given-names>C</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Baron</surname><given-names>R</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Helmchen</surname><given-names>C</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</addr-line></aff><aff id="aff2"><label>2</label><addr-line>Department of Neurology, University of Lübeck, Lübeck, Germany</addr-line></aff><aff id="aff3"><label>3</label><addr-line>Department of Human Genetics, University of Lübeck, Lübeck, Germany</addr-line></aff><aff id="aff4"><label>4</label><addr-line>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</addr-line></aff><author-notes><corresp>Dr J Gierthmühlen, Universitätsklinikum Schleswig-Holstein, Campus Kiel, Department of Neurology, Division of Neurological Pain Research and Therapy, Schittenhelmstrasse 10, 24105 Kiel, Germany; <email xlink:type="simple">j.ludwig@neurologie.uni-kiel.de</email></corresp></author-notes><pub-date pub-type="ppub"><month>5</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>16</day><month>4</month><year>2009</year></pub-date><volume>80</volume><volume-id pub-id-type="other">80</volume-id><volume-id pub-id-type="other">80</volume-id><issue>5</issue><issue-id pub-id-type="other">jnnp;80/5</issue-id><issue-id pub-id-type="other">5</issue-id><issue-id pub-id-type="other">80/5</issue-id><fpage>571</fpage><history><date date-type="received"><day>19</day><month>7</month><year>2008</year></date><date date-type="rev-recd"><day>20</day><month>10</month><year>2008</year></date><date date-type="accepted"><day>28</day><month>10</month><year>2008</year></date></history><permissions><copyright-statement>2009 BMJ Publishing Group</copyright-statement><copyright-year>2009</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jnnp-80-571.pdf"></self-uri><abstract><sec><title>Background:</title><p>It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia.</p></sec><sec><title>Objective:</title><p>The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic <italic>PINK1</italic> mutation carriers.</p></sec><sec><title>Methods:</title><p>Fourteen family members with <italic>PINK1</italic> mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST).</p></sec><sec><title>Results:</title><p>Thresholds for mechanical detection, mechanical pain and pressure pain were higher in <italic>PINK1</italic> mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected <italic>PINK1</italic> mutation carriers.</p></sec><sec><title>Conclusions:</title><p>Data suggest that <italic>PINK1</italic>-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between <italic>PINK1</italic> mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.</p></sec></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease</title></titleInfo><name type="personal"><namePart type="given">J</namePart><namePart type="family">Gierthmühlen</namePart><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Lienau</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R</namePart><namePart type="family">Maag</namePart><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J M</namePart><namePart type="family">Hagenah</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G</namePart><namePart type="family">Deuschl</namePart><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">E</namePart><namePart type="family">Fritzer</namePart><affiliation>Department of Medical Informatics and Statistics, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Klein</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R</namePart><namePart type="family">Baron</namePart><affiliation>Universitätsklinikum Schleswig-Holstein, Division of Neurological Pain Research and Therapy, Department of Neurology, University of Kiel, Kiel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C</namePart><namePart type="family">Helmchen</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><genre>hwp-journal-coll</genre><topic>Drugs: CNS (not psychiatric)</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Pain (neurology)</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Parkinson's disease</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2009-05</dateIssued><dateCreated encoding="w3cdtf">2009-04-16</dateCreated><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>Background: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. Objective: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. Methods: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). Results: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. Conclusions: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.</abstract><relatedItem type="host"><titleInfo><title>Journal of Neurology, Neurosurgery & Psychiatry</title></titleInfo><titleInfo type="abbreviated"><title>J Neurol Neurosurg Psychiatry</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0022-3050</identifier><identifier type="eISSN">1468-330X</identifier><identifier type="PublisherID">jnnp</identifier><identifier type="PublisherID-hwp">jnnp</identifier><identifier type="PublisherID-nlm-ta">J Neurol Neurosurg Psychiatry</identifier><part><date>2009</date><detail type="volume"><caption>vol.</caption><number>80</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>571</start></extent></part></relatedItem><identifier type="istex">6C46BC93283072D9A9ED2819481AFB5229FB92D5</identifier><identifier type="DOI">10.1136/jnnp.2008.158659</identifier><identifier type="href">jnnp-80-571.pdf</identifier><identifier type="ArticleID">jn158659</identifier><identifier type="PMID">19372294</identifier><identifier type="local">jnnp;80/5/571</identifier><accessCondition type="use and reproduction" contentType="copyright">2009 BMJ Publishing Group</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><original>true</original><mimetype>image/jpeg</mimetype><extension>jpeg</extension><uri>https://api.istex.fr/document/6C46BC93283072D9A9ED2819481AFB5229FB92D5/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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