Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries
Identifieur interne : 001259 ( PascalFrancis/Curation ); précédent : 001258; suivant : 001260Clinicogenetic 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.
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Japan Foundation for Aging and Health</s1><s2>Chita, Aichi</s2><s3>JPN</s3><sZ>3 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, National Hospital Organization, Sagamihara National Hospital</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Honmachi Neurological Clinic</s1><s2>Nagoya</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>9 aut.</sZ></inist:fA14><country>Taïwan</country></affiliation></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine</s1><s2>Technion, Haifa</s2><s3>ISR</s3><sZ>10 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Rabin Medical Center-Beilinson Campus Tel-Aviv University, Sackler School of Medicine</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Rabin Medical Center-Beilinson Campus Tel-Aviv University, Sackler School of Medicine</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Mei Wang" sort="Mei Wang" uniqKey="Mei Wang" last="Mei Wang">MEI WANG</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders</s1><s2>Shizuoka</s2><s3>JPN</s3><sZ>19 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>First Department of Medicine, Hamamatsu University School of Medicine</s1><s2>Hamamatsu</s2><s3>JPN</s3><sZ>20 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>21 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Functional Genomics, Osaka University Graduate School of Medicine</s1><s2>Suita</s2><s3>JPN</s3><sZ>22 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>CREST, Japan Science and Technology Corporation</s1><s2>Kawaguchi, Saitama</s2><s3>JPN</s3><sZ>22 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></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="1"><inist:fA14 i1="14"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>23 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>CREST, Japan Science and Technology Corporation</s1><s2>Kawaguchi, Saitama</s2><s3>JPN</s3><sZ>22 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0435076</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0435076 INIST</idno><idno type="RBID">Pascal:06-0435076</idno><idno type="wicri:Area/PascalFrancis/Corpus">001A62</idno><idno type="wicri:Area/PascalFrancis/Curation">001259</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Japan Foundation for Aging and Health</s1><s2>Chita, Aichi</s2><s3>JPN</s3><sZ>3 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hasegawa, Kazuko" sort="Hasegawa, Kazuko" uniqKey="Hasegawa K" first="Kazuko" last="Hasegawa">Kazuko Hasegawa</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, National Hospital Organization, Sagamihara National Hospital</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Kubo, Shin Ichiro" sort="Kubo, Shin Ichiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hattori, Tatsuya" sort="Hattori, Tatsuya" uniqKey="Hattori T" first="Tatsuya" last="Hattori">Tatsuya Hattori</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Honmachi Neurological Clinic</s1><s2>Nagoya</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Lu, Chin Song" sort="Lu, Chin Song" uniqKey="Lu C" first="Chin-Song" last="Lu">Chin-Song Lu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>9 aut.</sZ></inist:fA14><country>Taïwan</country></affiliation></author><author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine</s1><s2>Technion, Haifa</s2><s3>ISR</s3><sZ>10 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Rabin Medical Center-Beilinson Campus Tel-Aviv University, Sackler School of Medicine</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Rabin Medical Center-Beilinson Campus Tel-Aviv University, Sackler School of Medicine</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Amouri, Rim" sort="Amouri, Rim" uniqKey="Amouri R" first="Rim" last="Amouri">Rim Amouri</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Gouider Khouja, Neziha" sort="Gouider Khouja, Neziha" uniqKey="Gouider Khouja N" first="Neziha" last="Gouider-Khouja">Neziha Gouider-Khouja</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Tunisie</country></affiliation></author><author><name sortKey="Hatano, Yasuko" sort="Hatano, Yasuko" uniqKey="Hatano Y" first="Yasuko" last="Hatano">Yasuko Hatano</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Mei Wang" sort="Mei Wang" uniqKey="Mei Wang" last="Mei Wang">MEI WANG</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders</s1><s2>Shizuoka</s2><s3>JPN</s3><sZ>19 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Miyajima, Hiroaki" sort="Miyajima, Hiroaki" uniqKey="Miyajima H" first="Hiroaki" last="Miyajima">Hiroaki Miyajima</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>First Department of Medicine, Hamamatsu University School of Medicine</s1><s2>Hamamatsu</s2><s3>JPN</s3><sZ>20 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>21 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Division of Functional Genomics, Osaka University Graduate School of Medicine</s1><s2>Suita</s2><s3>JPN</s3><sZ>22 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>CREST, Japan Science and Technology Corporation</s1><s2>Kawaguchi, Saitama</s2><s3>JPN</s3><sZ>22 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></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="1"><inist:fA14 i1="14"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>23 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>CREST, Japan Science and Technology Corporation</s1><s2>Kawaguchi, Saitama</s2><s3>JPN</s3><sZ>22 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>Japon</country></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="2006">2006</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>Exon</term><term>Human</term><term>Kinase</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Scintigraphy</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Parkinson maladie</term><term>Mutation</term><term>Exon</term><term>Homme</term><term>Kinase</term><term>Scintigraphie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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 <sup>123</sup>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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>21</s2></fA05><fA06><s2>8</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries</s1></fA08><fA11 i1="01" i2="1"><s1>TOMIYAMA (Hiroyuki)</s1></fA11><fA11 i1="02" i2="1"><s1>YUANZHE LI</s1></fA11><fA11 i1="03" i2="1"><s1>FUNAYAMA (Manabu)</s1></fA11><fA11 i1="04" i2="1"><s1>HASEGAWA (Kazuko)</s1></fA11><fA11 i1="05" i2="1"><s1>YOSHINO (Hiroyo)</s1></fA11><fA11 i1="06" i2="1"><s1>KUBO (Shin-Ichiro)</s1></fA11><fA11 i1="07" i2="1"><s1>SATO (Kenichi)</s1></fA11><fA11 i1="08" i2="1"><s1>HATTORI (Tatsuya)</s1></fA11><fA11 i1="09" i2="1"><s1>LU (Chin-Song)</s1></fA11><fA11 i1="10" i2="1"><s1>INZELBERG (Rivka)</s1></fA11><fA11 i1="11" i2="1"><s1>DJALDETTI (Ruth)</s1></fA11><fA11 i1="12" i2="1"><s1>MELAMED (Eldad)</s1></fA11><fA11 i1="13" i2="1"><s1>AMOURI (Rim)</s1></fA11><fA11 i1="14" i2="1"><s1>GOUIDER-KHOUJA (Neziha)</s1></fA11><fA11 i1="15" i2="1"><s1>HENTATI (Faycal)</s1></fA11><fA11 i1="16" i2="1"><s1>HATANO (Yasuko)</s1></fA11><fA11 i1="17" i2="1"><s1>MEI WANG</s1></fA11><fA11 i1="18" i2="1"><s1>IMAMICHI (Yoko)</s1></fA11><fA11 i1="19" i2="1"><s1>MIZOGUCHI (Koichi)</s1></fA11><fA11 i1="20" i2="1"><s1>MIYAJIMA (Hiroaki)</s1></fA11><fA11 i1="21" i2="1"><s1>OBATA (Fumiya)</s1></fA11><fA11 i1="22" i2="1"><s1>TODA (Tatsushi)</s1></fA11><fA11 i1="23" i2="1"><s1>FARRER (Matthew J.)</s1></fA11><fA11 i1="24" i2="1"><s1>MIZUNO (Yoshikuni)</s1></fA11><fA11 i1="25" i2="1"><s1>HATTORI (Nobutaka)</s1></fA11><fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>16 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ><sZ>25 aut.</sZ></fA14><fA14 i1="02"><s1>Japan Foundation for Aging and Health</s1><s2>Chita, Aichi</s2><s3>JPN</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, National Hospital Organization, Sagamihara National Hospital</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Honmachi Neurological Clinic</s1><s2>Nagoya</s2><s3>JPN</s3><sZ>8 aut.</sZ></fA14><fA14 i1="05"><s1>Movement Disorders Unit, Department of Neurology, Chang Gung Memorial Hospital</s1><s2>Taipei</s2><s3>TWN</s3><sZ>9 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine</s1><s2>Technion, Haifa</s2><s3>ISR</s3><sZ>10 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Rabin Medical Center-Beilinson Campus Tel-Aviv University, Sackler School of Medicine</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="08"><s1>National Institute of Neurology of Tunis</s1><s2>Tunis</s2><s3>TUN</s3><sZ>13 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders</s1><s2>Shizuoka</s2><s3>JPN</s3><sZ>19 aut.</sZ></fA14><fA14 i1="10"><s1>First Department of Medicine, Hamamatsu University School of Medicine</s1><s2>Hamamatsu</s2><s3>JPN</s3><sZ>20 aut.</sZ></fA14><fA14 i1="11"><s1>Division of Clinical Immunology, Kitasato University Graduate School of Medical Sciences</s1><s2>Sagamihara</s2><s3>JPN</s3><sZ>21 aut.</sZ></fA14><fA14 i1="12"><s1>Division of Functional Genomics, Osaka University Graduate School of Medicine</s1><s2>Suita</s2><s3>JPN</s3><sZ>22 aut.</sZ></fA14><fA14 i1="13"><s1>CREST, Japan Science and Technology Corporation</s1><s2>Kawaguchi, Saitama</s2><s3>JPN</s3><sZ>22 aut.</sZ><sZ>25 aut.</sZ></fA14><fA14 i1="14"><s1>Department of Neuroscience, Mayo Clinic</s1><s2>Jacksonville, Florida</s2><s3>USA</s3><sZ>23 aut.</sZ></fA14><fA20><s1>1102-1108</s1></fA20><fA21><s1>2006</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000142193570070</s5></fA43><fA44><s0>0000</s0><s1>© 2006 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>29 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>06-0435076</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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 <sup>123</sup>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC02 i1="03" i2="X"><s0>002B17F</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Parkinson maladie</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Parkinson disease</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Exon</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Exon</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Exón</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Homme</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Human</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Hombre</s0><s5>11</s5></fC03><fC03 i1="06" i2="X" l="FRE"><s0>Kinase</s0><s2>FE</s2><s5>12</s5></fC03><fC03 i1="06" i2="X" l="ENG"><s0>Kinase</s0><s2>FE</s2><s5>12</s5></fC03><fC03 i1="06" i2="X" l="SPA"><s0>Kinase</s0><s2>FE</s2><s5>12</s5></fC03><fC03 i1="07" i2="X" l="FRE"><s0>Scintigraphie</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="ENG"><s0>Scintigraphy</s0><s5>13</s5></fC03><fC03 i1="07" i2="X" l="SPA"><s0>Centelleografía</s0><s5>13</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Transferases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Transferases</s0><s2>FE</s2></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Transferases</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Enzyme</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Enzyme</s0><s2>FE</s2></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0><s2>FE</s2></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0><s5>40</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>289</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries
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