Movement Disorders (revue)

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Olfactory Heterogeneity in LRRK2 Related Parkinsonism

Identifieur interne : 001F27 ( Main/Exploration ); précédent : 001F26; suivant : 001F28

Olfactory Heterogeneity in LRRK2 Related Parkinsonism

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

Source :

RBID : Pascal:11-0065121

Descripteurs français

English descriptors

Abstract

LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at postmortem. 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.


Affiliations:


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Le document en format XML

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<title xml:lang="en" level="a">Olfactory Heterogeneity in LRRK2 Related Parkinsonism</title>
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<name sortKey="Andrade, Luiz Augusto F" sort="Andrade, Luiz Augusto F" uniqKey="Andrade L" first="Luiz Augusto F." last="Andrade">Luiz Augusto F. Andrade</name>
<affiliation wicri:level="2">
<inist:fA14 i1="05">
<s1>Instituto do Cérebro - Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein</s1>
<s2>São Paulo-SP</s2>
<s3>BRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Chien, Hsin F" sort="Chien, Hsin F" uniqKey="Chien H" first="Hsin F." last="Chien">Hsin F. Chien</name>
<affiliation wicri:level="2">
<inist:fA14 i1="03">
<s1>Department of Neurology, University of Sao Paulo School of Medicine</s1>
<s2>Sao Paulo-SP</s2>
<s3>BRA</s3>
<sZ>3 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation wicri:level="3">
<inist:fA14 i1="08">
<s1>Department of Clinical Genetics, Erasmus MC</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<placeName>
<settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Barbosa, Egberto R" sort="Barbosa, Egberto R" uniqKey="Barbosa E" first="Egberto R." last="Barbosa">Egberto R. Barbosa</name>
<affiliation wicri:level="2">
<inist:fA14 i1="03">
<s1>Department of Neurology, University of Sao Paulo School of Medicine</s1>
<s2>Sao Paulo-SP</s2>
<s3>BRA</s3>
<sZ>3 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName>
<region type="state">État de São Paulo</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
<affiliation wicri:level="2">
<inist:fA14 i1="02">
<s1>Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Paraná</s1>
<s2>Curitiba-PR</s2>
<s3>BRA</s3>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Brésil</country>
<placeName>
<region type="state">Paraná (État)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3">
<inist:fA14 i1="01">
<s1>Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName>National Hospital for Neurology and Neurosurgery</orgName>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Heterogeneity</term>
<term>Nervous system diseases</term>
<term>Olfaction</term>
<term>Parkinsonism</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Parkinsonisme</term>
<term>Pathologie du système nerveux</term>
<term>Hétérogénéité</term>
<term>Olfaction</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">LRRK2 mutations can cause familial and sporadic Parkinson's disease (PD) with Lewy-body pathology at postmortem. 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.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Brésil</li>
<li>Canada</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
</country>
<region>
<li>Angleterre</li>
<li>Grand Londres</li>
<li>Hollande-Méridionale</li>
<li>Ontario</li>
<li>Paraná (État)</li>
<li>État de São Paulo</li>
</region>
<settlement>
<li>Londres</li>
<li>Rotterdam</li>
<li>São Paulo</li>
<li>Toronto</li>
</settlement>
<orgName>
<li>National Hospital for Neurology and Neurosurgery</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree>
<country name="Royaume-Uni">
<region name="Angleterre">
<name sortKey="Silveira Moriyama, Laura" sort="Silveira Moriyama, Laura" uniqKey="Silveira Moriyama L" first="Laura" last="Silveira-Moriyama">Laura Silveira-Moriyama</name>
</region>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
</country>
<country name="Brésil">
<region name="Paraná (État)">
<name sortKey="Pupi Munhoz, Renato" sort="Pupi Munhoz, Renato" uniqKey="Pupi Munhoz R" first="Renato" last="Pupi Munhoz">Renato Pupi Munhoz</name>
</region>
<name sortKey="Aguiar, Patricia De C" sort="Aguiar, Patricia De C" uniqKey="Aguiar P" first="Patricia De C." last="Aguiar">Patricia De C. Aguiar</name>
<name sortKey="Andrade, Luiz Augusto F" sort="Andrade, Luiz Augusto F" uniqKey="Andrade L" first="Luiz Augusto F." last="Andrade">Luiz Augusto F. Andrade</name>
<name sortKey="Barbosa, Egberto R" sort="Barbosa, Egberto R" uniqKey="Barbosa E" first="Egberto R." last="Barbosa">Egberto R. Barbosa</name>
<name sortKey="Barsottini, Orlando G P" sort="Barsottini, Orlando G P" uniqKey="Barsottini O" first="Orlando G. P." last="Barsottini">Orlando G. P. Barsottini</name>
<name sortKey="Bressan, Rodrigo A" sort="Bressan, Rodrigo A" uniqKey="Bressan R" first="Rodrigo A." last="Bressan">Rodrigo A. Bressan</name>
<name sortKey="Bressan, Rodrigo A" sort="Bressan, Rodrigo A" uniqKey="Bressan R" first="Rodrigo A." last="Bressan">Rodrigo A. Bressan</name>
<name sortKey="Carvalho, Margarete De J" sort="Carvalho, Margarete De J" uniqKey="Carvalho M" first="Margarete De J." last="Carvalho">Margarete De J. Carvalho</name>
<name sortKey="Chien, Hsin F" sort="Chien, Hsin F" uniqKey="Chien H" first="Hsin F." last="Chien">Hsin F. Chien</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felicio">Andre C. Felicio</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felicio">Andre C. Felicio</name>
<name sortKey="Felicio, Andre C" sort="Felicio, Andre C" uniqKey="Felicio A" first="Andre C." last="Felicio">Andre C. Felicio</name>
<name sortKey="Raskin, Salmo" sort="Raskin, Salmo" uniqKey="Raskin S" first="Salmo" last="Raskin">Salmo Raskin</name>
<name sortKey="Teive, Helio A" sort="Teive, Helio A" uniqKey="Teive H" first="Helio A." last="Teive">Helio A. Teive</name>
</country>
<country name="Canada">
<region name="Ontario">
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
</region>
</country>
<country name="Pays-Bas">
<region name="Hollande-Méridionale">
<name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
</region>
</country>
</tree>
</affiliations>
</record>

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