Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries
Identifieur interne : 004841 ( Main/Merge ); précédent : 004840; suivant : 004842Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries
Auteurs : Hiroyuki Tomiyama [Japon] ; Yuanzhe Li [Japon] ; Manabu Funayama [Japon] ; Kazuko Hasegawa [Japon] ; Hiroyo Yoshino [Japon] ; Shin-Ichiro Kubo [Japon] ; Kenichi Sato [Japon] ; Tatsuya Hattori [Japon] ; Chin-Song Lu [Taïwan] ; Rivka Inzelberg [Israël] ; Ruth Djaldetti [Israël] ; Eldad Melamed [Israël] ; Rim Amouri [Tunisie] ; Neziha Gouider-Khouja [Tunisie] ; Faycal Hentati [Tunisie] ; Yasuko Hatano [Japon] ; Mei Wang [Japon] ; Yoko Imamichi [Japon] ; Koichi Mizoguchi [Japon] ; Hiroaki Miyajima [Japon] ; Fumiya Obata [Japon] ; Tatsushi Toda [Japon] ; Matthew J. Farrer [États-Unis] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-08.
English descriptors
- KwdEn :
- Antiparkinson Agents (therapeutic use), Exons, Family, Female, Humans, Levodopa (therapeutic use), Male, Mutation, PARK8, Parkinson Disease (drug therapy), Parkinson Disease (enzymology), Parkinson Disease (genetics), Parkinson Disease (psychology), Parkinson's disease, Pedigree, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases (genetics), cardiac 123I‐metaiodobenzylguanidine (MIBG) scintigraphy, genetics, leucin‐rich repeat kinase 2 (LRRK2).
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical , therapeutic use : Antiparkinson Agents, Levodopa.
- drug therapy : Parkinson Disease.
- enzymology : Parkinson Disease.
- genetics : Parkinson Disease.
- psychology : Parkinson Disease.
- Exons, Family, Female, Humans, Male, Mutation, Pedigree, Polymorphism, Single Nucleotide.
Abstract
We screened LRRK2 mutations in exon 41 in 904 parkin‐negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited relatively common and worldwide distribution. Among the three mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single‐founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single‐founder effect in Japanese patients. Clinically, patients with LRRK2 mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac 123I‐metaiodobenzylguanidine (MIBG) heart/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20886
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<author><name sortKey="Kubo, Shin Chiro" sort="Kubo, Shin Chiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
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<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
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<author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name>
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<author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
<affiliation wicri:level="1"><country xml:lang="fr">Taïwan</country>
<wicri:regionArea>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital, Taipei</wicri:regionArea>
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<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
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<wicri:regionArea>Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine, Technion, Haifa</wicri:regionArea>
<wicri:noRegion>Haifa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
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<wicri:regionArea>Department of Neurology, Rabin Medical Center‐Beilinson Campus Tel‐Aviv University, Sackler School of Medicine, Tel‐Aviv</wicri:regionArea>
<wicri:noRegion>Tel‐Aviv</wicri:noRegion>
</affiliation>
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<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
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<wicri:regionArea>Department of Neurology, Rabin Medical Center‐Beilinson Campus Tel‐Aviv University, Sackler School of Medicine, Tel‐Aviv</wicri:regionArea>
<wicri:noRegion>Tel‐Aviv</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
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<wicri:regionArea>National Institute of Neurology of Tunis, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
<affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country>
<wicri:regionArea>National Institute of Neurology of Tunis, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country>
<wicri:regionArea>National Institute of Neurology of Tunis, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wang, Mei" sort="Wang, Mei" uniqKey="Wang M" first="Mei" last="Wang">Mei Wang</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</wicri:regionArea>
<wicri:noRegion>Shizuoka</wicri:noRegion>
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</author>
<author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name>
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<wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea>
<wicri:noRegion>Hamamatsu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name>
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<wicri:regionArea>Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences, Sagamihara</wicri:regionArea>
<wicri:noRegion>Sagamihara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name>
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<wicri:regionArea>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita</wicri:regionArea>
<wicri:noRegion>Suita</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea>
<wicri:noRegion>Saitama</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea>
<wicri:noRegion>Saitama</wicri:noRegion>
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<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term>
<term>Exons</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Mutation</term>
<term>PARK8</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (psychology)</term>
<term>Parkinson's disease</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>cardiac 123I‐metaiodobenzylguanidine (MIBG) scintigraphy</term>
<term>genetics</term>
<term>leucin‐rich repeat kinase 2 (LRRK2)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Exons</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
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<front><div type="abstract" xml:lang="en">We screened LRRK2 mutations in exon 41 in 904 parkin‐negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited relatively common and worldwide distribution. Among the three mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single‐founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single‐founder effect in Japanese patients. Clinically, patients with LRRK2 mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac 123I‐metaiodobenzylguanidine (MIBG) heart/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations. © 2006 Movement Disorder Society</div>
</front>
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<double doi="10.1002/mds.20886"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries</title>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
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<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<author><name sortKey="Kubo, Shin Chiro" sort="Kubo, Shin Chiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
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<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
</author>
<author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name>
</author>
<author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
</author>
<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
</author>
<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
</author>
<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
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<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
</author>
<author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name>
</author>
<author><name sortKey="Wang, Mei" sort="Wang, Mei" uniqKey="Wang M" first="Mei" last="Wang">Mei Wang</name>
</author>
<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
</author>
<author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name>
</author>
<author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name>
</author>
<author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name>
</author>
<author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<placeName><settlement type="city">Tokyo</settlement>
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</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Japan Foundation for Aging and Health, Chita, Aichi</wicri:regionArea>
<wicri:noRegion>Aichi</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
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</affiliation>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<author><name sortKey="Kubo, Shin Chiro" sort="Kubo, Shin Chiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
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<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
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<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name>
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<wicri:regionArea>Department of Neurology, Honmachi Neurological Clinic, Nagoya</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Lu, Chin Ong" sort="Lu, Chin Ong" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
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</affiliation>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
<affiliation wicri:level="1"><country xml:lang="fr">Israël</country>
<wicri:regionArea>Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine, Technion, Haifa</wicri:regionArea>
<wicri:noRegion>Haifa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
<affiliation wicri:level="1"><country xml:lang="fr">Israël</country>
<wicri:regionArea>Department of Neurology, Rabin Medical Center‐Beilinson Campus Tel‐Aviv University, Sackler School of Medicine, Tel‐Aviv</wicri:regionArea>
<wicri:noRegion>Tel‐Aviv</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
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<wicri:regionArea>Department of Neurology, Rabin Medical Center‐Beilinson Campus Tel‐Aviv University, Sackler School of Medicine, Tel‐Aviv</wicri:regionArea>
<wicri:noRegion>Tel‐Aviv</wicri:noRegion>
</affiliation>
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<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
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<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gouider Houja, Neziha" sort="Gouider Houja, Neziha" uniqKey="Gouider Houja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
<affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country>
<wicri:regionArea>National Institute of Neurology of Tunis, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
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<wicri:regionArea>National Institute of Neurology of Tunis, Tunis</wicri:regionArea>
<wicri:noRegion>Tunis</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name>
<affiliation wicri:level="3"><country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wang, Mei" sort="Wang, Mei" uniqKey="Wang M" first="Mei" last="Wang">Mei Wang</name>
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<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
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<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name>
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<wicri:regionArea>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</wicri:regionArea>
<wicri:noRegion>Shizuoka</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name>
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<wicri:regionArea>First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea>
<wicri:noRegion>Hamamatsu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name>
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<wicri:regionArea>Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences, Sagamihara</wicri:regionArea>
<wicri:noRegion>Sagamihara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name>
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<wicri:regionArea>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita</wicri:regionArea>
<wicri:noRegion>Suita</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea>
<wicri:noRegion>Saitama</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
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<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="1"><country xml:lang="fr">Japon</country>
<wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea>
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<series><title level="j">Movement Disorders</title>
<title level="j" type="sub">Official Journal of the Movement Disorder Society</title>
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<term>cardiac 123I‐metaiodobenzylguanidine (MIBG) scintigraphy</term>
<term>genetics</term>
<term>leucin‐rich repeat kinase 2 (LRRK2)</term>
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<front><div type="abstract" xml:lang="en">We screened LRRK2 mutations in exon 41 in 904 parkin‐negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited relatively common and worldwide distribution. Among the three mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single‐founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single‐founder effect in Japanese patients. Clinically, patients with LRRK2 mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac 123I‐metaiodobenzylguanidine (MIBG) heart/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations. © 2006 Movement Disorder Society</div>
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<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.</title>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
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<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</author>
<author><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
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<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
</author>
<author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name>
</author>
<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
</author>
<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
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<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
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<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
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<author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
</author>
<author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name>
</author>
<author><name sortKey="Wang, Mei" sort="Wang, Mei" uniqKey="Wang M" first="Mei" last="Wang">Mei Wang</name>
</author>
<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
</author>
<author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name>
</author>
<author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name>
</author>
<author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name>
</author>
<author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2006">2006</date>
<idno type="doi">10.1002/mds.20886</idno>
<idno type="RBID">pubmed:16622854</idno>
<idno type="pmid">16622854</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.</title>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
</author>
<author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</author>
<author><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
</author>
<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
</author>
<author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name>
</author>
<author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name>
</author>
<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
</author>
<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
</author>
<author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
</author>
<author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name>
</author>
<author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name>
</author>
<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
</author>
<author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name>
</author>
<author><name sortKey="Wang, Mei" sort="Wang, Mei" uniqKey="Wang M" first="Mei" last="Wang">Mei Wang</name>
</author>
<author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
</author>
<author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name>
</author>
<author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name>
</author>
<author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name>
</author>
<author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
</author>
<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006" type="published">2006</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Antiparkinson Agents (therapeutic use)</term>
<term>Exons</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Levodopa (therapeutic use)</term>
<term>Male</term>
<term>Mutation</term>
<term>Parkinson Disease (drug therapy)</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (psychology)</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Antiparkinson Agents</term>
<term>Levodopa</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Exons</term>
<term>Family</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We screened LRRK2 mutations in exon 41 in 904 parkin-negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in LRRK2 exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The LRRK2 mutations in exon 41 exhibited relatively common and worldwide distribution. Among the three mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single-founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single-founder effect in Japanese patients. Clinically, patients with LRRK2 mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac (123)I-metaiodobenzylguanidine (MIBG) heart/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations.</div>
</front>
</TEI>
</PubMed>
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