VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease
Identifieur interne : 000009 ( PascalFrancis/Checkpoint ); précédent : 000008; suivant : 000010VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease
Auteurs : Maya Ando [Japon] ; Manabu Funayama [Japon] ; YUANZHE LI [Japon] ; Kenichi Kashihara [Japon] ; Yoshitake Murakami [Japon] ; Nobutaka Ishizu [Japon] ; Chizuko Toyoda [Japon] ; Katsuhiko Noguchi [Japon] ; Takashi Hashimoto [Japon] ; Naoki Nakano [Japon] ; Ryogen Sasaki [Japon] ; Yasumasa Kokubo [Japon] ; Shigeki Kuzuhara [Japon] ; Kotaro Ogaki [Japon] ; Chikara Yamashita [Japon] ; Hiroyo Yoshino [Japon] ; Taku Hatano [Japon] ; Hiroyuki Tomiyama [Japon] ; Nobutaka Hattori [Japon]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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Abstract
Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous missense variants of VPS35, including p.D620N, known as potentially disease-associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high-resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of VPS35 were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the VPS35 mutation showed typical tremor-predominant PD. We report Asian PD patients with the VPS35 mutation. Although VPS35 mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In VPS35, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, VPS35 should be analyzed in patients with PD, especially autosomal dominant PD or tremor-predominant PD.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease</title><author><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Okayama Kyokuto Hospital</s1><s2>Okayama</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Okayama</wicri:noRegion></affiliation></author><author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Saiseikai Kurihashi Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>5 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Saitama National Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Jikei Daisan Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurology, Kakio Kinen Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hashimoto Clinic</s1><s2>Osaka</s2><s3>JPN</s3><sZ>9 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hashimoto Clinic</wicri:noRegion></affiliation></author><author><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurosurgery, Kinki University Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>10 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Mie University Graduate School of Medicine</s1><s2>Tsu, Mie</s2><s3>JPN</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tsu, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Mie University Graduate School of Medicine</s1><s2>Tsu, Mie</s2><s3>JPN</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tsu, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science</s1><s2>Suzuka, Mie</s2><s3>JPN</s3><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Suzuka, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><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"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0393075</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0393075 INIST</idno><idno type="RBID">Pascal:12-0393075</idno><idno type="wicri:Area/PascalFrancis/Corpus">000080</idno><idno type="wicri:Area/PascalFrancis/Curation">002C34</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000009</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease</title><author><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Okayama Kyokuto Hospital</s1><s2>Okayama</s2><s3>JPN</s3><sZ>4 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Okayama</wicri:noRegion></affiliation></author><author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Saiseikai Kurihashi Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>5 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurology, Saitama National Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>6 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Jikei Daisan Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Department of Neurology, Kakio Kinen Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>8 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Hashimoto Clinic</s1><s2>Osaka</s2><s3>JPN</s3><sZ>9 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Hashimoto Clinic</wicri:noRegion></affiliation></author><author><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Neurosurgery, Kinki University Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>10 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Mie University Graduate School of Medicine</s1><s2>Tsu, Mie</s2><s3>JPN</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tsu, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Mie University Graduate School of Medicine</s1><s2>Tsu, Mie</s2><s3>JPN</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Tsu, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science</s1><s2>Suzuka, Mie</s2><s3>JPN</s3><sZ>13 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Suzuka, Mie</wicri:noRegion></affiliation></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="3"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><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"><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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>19 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></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="2012">2012</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>Human</term><term>Japanese</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinson disease</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Mutation</term><term>Japonais</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous missense variants of VPS35, including p.D620N, known as potentially disease-associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high-resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of VPS35 were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the VPS35 mutation showed typical tremor-predominant PD. We report Asian PD patients with the VPS35 mutation. Although VPS35 mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In VPS35, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, VPS35 should be analyzed in patients with PD, especially autosomal dominant PD or tremor-predominant PD.</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>27</s2></fA05><fA06><s2>11</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease</s1></fA08><fA11 i1="01" i2="1"><s1>ANDO (Maya)</s1></fA11><fA11 i1="02" i2="1"><s1>FUNAYAMA (Manabu)</s1></fA11><fA11 i1="03" i2="1"><s1>YUANZHE LI</s1></fA11><fA11 i1="04" i2="1"><s1>KASHIHARA (Kenichi)</s1></fA11><fA11 i1="05" i2="1"><s1>MURAKAMI (Yoshitake)</s1></fA11><fA11 i1="06" i2="1"><s1>ISHIZU (Nobutaka)</s1></fA11><fA11 i1="07" i2="1"><s1>TOYODA (Chizuko)</s1></fA11><fA11 i1="08" i2="1"><s1>NOGUCHI (Katsuhiko)</s1></fA11><fA11 i1="09" i2="1"><s1>HASHIMOTO (Takashi)</s1></fA11><fA11 i1="10" i2="1"><s1>NAKANO (Naoki)</s1></fA11><fA11 i1="11" i2="1"><s1>SASAKI (Ryogen)</s1></fA11><fA11 i1="12" i2="1"><s1>KOKUBO (Yasumasa)</s1></fA11><fA11 i1="13" i2="1"><s1>KUZUHARA (Shigeki)</s1></fA11><fA11 i1="14" i2="1"><s1>OGAKI (Kotaro)</s1></fA11><fA11 i1="15" i2="1"><s1>YAMASHITA (Chikara)</s1></fA11><fA11 i1="16" i2="1"><s1>YOSHINO (Hiroyo)</s1></fA11><fA11 i1="17" i2="1"><s1>HATANO (Taku)</s1></fA11><fA11 i1="18" i2="1"><s1>TOMIYAMA (Hiroyuki)</s1></fA11><fA11 i1="19" 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>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>16 aut.</sZ><sZ>18 aut.</sZ><sZ>19 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Neurology, Okayama Kyokuto Hospital</s1><s2>Okayama</s2><s3>JPN</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Saiseikai Kurihashi Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurology, Saitama National Hospital</s1><s2>Saitama</s2><s3>JPN</s3><sZ>6 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Jikei Daisan Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>7 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neurology, Kakio Kinen Hospital</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>8 aut.</sZ></fA14><fA14 i1="08"><s1>Hashimoto Clinic</s1><s2>Osaka</s2><s3>JPN</s3><sZ>9 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurosurgery, Kinki University Hospital</s1><s2>Osaka</s2><s3>JPN</s3><sZ>10 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Neurology, Mie University Graduate School of Medicine</s1><s2>Tsu, Mie</s2><s3>JPN</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science</s1><s2>Suzuka, Mie</s2><s3>JPN</s3><sZ>13 aut.</sZ></fA14><fA14 i1="12"><s1>Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>19 aut.</sZ></fA14><fA20><s1>1413-1417</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000502036870170</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>25 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0393075</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>Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous missense variants of VPS35, including p.D620N, known as potentially disease-associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high-resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of VPS35 were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the VPS35 mutation showed typical tremor-predominant PD. We report Asian PD patients with the VPS35 mutation. Although VPS35 mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In VPS35, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, VPS35 should be analyzed in patients with PD, especially autosomal dominant PD or tremor-predominant PD.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Maladie de Parkinson</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Parkinson disease</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Parkinson enfermedad</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</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>Japonais</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Japanese</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Japonés</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><fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>40</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>40</s5></fC07><fN21><s1>303</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name></noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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