MovDisordV3, Main, Exploration, bibRecord, 000F37

VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease

Identifieur interne : 000F37 ( Main/Exploration ); précédent : 000F36; suivant : 000F38

VPS35 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.

RBID : Pascal:12-0393075

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Mutation, Japonais, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Human, Japanese, Mutation, Nervous system diseases, Parkinson disease.

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.

Affiliations:

Japon
Tokyo

Links toward previous steps (curation, corpus...)

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Le document en format XML

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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="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
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<author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name>
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<author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name>
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<author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name>
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<author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name>
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<author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name>
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<author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name>
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<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>
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<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<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>
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<placeName><settlement type="city">Tokyo</settlement>
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<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>
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<placeName><settlement type="city">Tokyo</settlement>
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</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>
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<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>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
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<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>
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<placeName><settlement type="city">Tokyo</settlement>
</placeName>
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</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>
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<placeName><settlement type="city">Tokyo</settlement>
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<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>
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<sZ>3 aut.</sZ>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
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<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>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
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</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>
<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>

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	Movement Disorders (revue)
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Movement Disorders (revue)

VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease

VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease

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