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Olfactory heterogeneity in LRRK2 related Parkinsonism

Identifieur interne : 002737 ( Main/Corpus ); précédent : 002736; suivant : 002738

Olfactory heterogeneity in LRRK2 related Parkinsonism

Auteurs : Laura Silveira-Moriyama ; Renato Pupi Munhoz ; Margarete De J. Carvalho ; Salmo Raskin ; Ekaterina Rogaeva ; Patricia De C. Aguiar ; Rodrigo A. Bressan ; Andre C. Felicio ; Orlando G. P. Barsottini ; Luiz Augusto F. Andrade ; Hsin F. Chien ; Vincenzo Bonifati ; Egberto R. Barbosa ; Helio A. Teive ; Andrew J. Lees

Source :

RBID : ISTEX:812BDDD70A7C5A82FA206880E00F606B2AC14CD9

English descriptors

Abstract

LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy‐body pathology at post‐mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS‐16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS‐16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for β = −4.7 to −1.7) and lower than in controls (p = 0.007, 95% CI for β = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. © 2010 Movement Disorder Society

Url:
DOI: 10.1002/mds.23325

Links to Exploration step

ISTEX:812BDDD70A7C5A82FA206880E00F606B2AC14CD9

Le document en format XML

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<div type="abstract" xml:lang="en">LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy‐body pathology at post‐mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS‐16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS‐16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for β = −4.7 to −1.7) and lower than in controls (p = 0.007, 95% CI for β = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. © 2010 Movement Disorder Society</div>
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<affiliation>Laboratório Interdisciplinar de Neurosciencias Clínicas ‐ LiNC, Universidade Federal de Sao Paulo, UNIFESP, São Paulo, Brazil</affiliation>
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<name type="personal">
<namePart type="given">Andre C.</namePart>
<namePart type="family">Felicio</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Instituto do Cérebro ‐ Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo‐SP, Brazil</affiliation>
<affiliation>Laboratório Interdisciplinar de Neurosciencias Clínicas ‐ LiNC, Universidade Federal de Sao Paulo, UNIFESP, São Paulo, Brazil</affiliation>
<affiliation>Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil</affiliation>
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<name type="personal">
<namePart type="given">Orlando G.P.</namePart>
<namePart type="family">Barsottini</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, SP, Brazil</affiliation>
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<roleTerm type="text">author</roleTerm>
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</name>
<name type="personal">
<namePart type="given">Luiz Augusto F.</namePart>
<namePart type="family">Andrade</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Instituto do Cérebro ‐ Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo‐SP, Brazil</affiliation>
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<roleTerm type="text">author</roleTerm>
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<name type="personal">
<namePart type="given">Hsin F.</namePart>
<namePart type="family">Chien</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo‐SP, Brazil</affiliation>
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<name type="personal">
<namePart type="given">Vincenzo</namePart>
<namePart type="family">Bonifati</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands</affiliation>
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</name>
<name type="personal">
<namePart type="given">Egberto R.</namePart>
<namePart type="family">Barbosa</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
<affiliation>Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo‐SP, Brazil</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
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</name>
<name type="personal">
<namePart type="given">Helio A.</namePart>
<namePart type="family">Teive</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Paraná, Curitiba‐PR, Brazil</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">Andrew J.</namePart>
<namePart type="family">Lees</namePart>
<namePart type="termsOfAddress">MD</namePart>
<affiliation>Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom</affiliation>
<description>Correspondence: Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1 Wakefield St, London, WC1N 1PJ, United Kingdom</description>
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<dateIssued encoding="w3cdtf">2010-12-15</dateIssued>
<dateCaptured encoding="w3cdtf">2010-02-24</dateCaptured>
<dateValid encoding="w3cdtf">2010-06-01</dateValid>
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<abstract lang="en">LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy‐body pathology at post‐mortem. Studies of olfaction in LRRK2 are sparse and incongruent. We applied a previously validated translation of the 16 item smell identification test from Sniffin' Sticks (SS‐16) to 14 parkinsonian carriers of heterozygous G2019S LRRK2 mutation and compared with 106 PD patients and 118 healthy controls. The mean SS‐16 score in LRRK2 was higher than in PD (p < 0.001, 95% CI for β = −4.7 to −1.7) and lower than in controls (p = 0.007, 95% CI for β = +0.6 to +3.6). In the LRRK2 group, subjects with low scores had significantly more dyskinesia. They also had younger age of onset, longer disease duration, and reported less frequently a family history of PD, but none of these other differences reached significance. Odor identification is diminished in LRRK2 parkinsonism but not to the same extent as in idiopathic PD. © 2010 Movement Disorder Society</abstract>
<note type="content">*Potential conflict of interest: The authors do not have any conflict of interest.</note>
<note type="funding">Reta Lila Weston Trust for Medical Research and Foundation Philantropique Edmond Safra</note>
<subject lang="en">
<genre>Keywords</genre>
<topic>olfaction</topic>
<topic>smell</topic>
<topic>LRRK2</topic>
<topic>PARK8</topic>
<topic>parkinsonism</topic>
</subject>
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<title>Movement Disorders</title>
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<title>Mov. Disord.</title>
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<genre type="Journal">journal</genre>
<note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information - </note>
<subject>
<genre>article category</genre>
<topic>Brief Report</topic>
</subject>
<identifier type="ISSN">0885-3185</identifier>
<identifier type="eISSN">1531-8257</identifier>
<identifier type="DOI">10.1002/(ISSN)1531-8257</identifier>
<identifier type="PublisherID">MDS</identifier>
<part>
<date>2010</date>
<detail type="volume">
<caption>vol.</caption>
<number>25</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>16</number>
</detail>
<extent unit="pages">
<start>2879</start>
<end>2883</end>
<total>5</total>
</extent>
</part>
</relatedItem>
<identifier type="istex">812BDDD70A7C5A82FA206880E00F606B2AC14CD9</identifier>
<identifier type="DOI">10.1002/mds.23325</identifier>
<identifier type="ArticleID">MDS23325</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 Movement Disorder Society</accessCondition>
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