MovDisordV3, PascalFrancis, Corpus, bibRecord, 000080

VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease

Identifieur interne : 000080 ( PascalFrancis/Corpus ); précédent : 000079; suivant : 000081

VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease

Auteurs : Maya Ando ; Manabu Funayama ; YUANZHE LI ; Kenichi Kashihara ; Yoshitake Murakami ; Nobutaka Ishizu ; Chizuko Toyoda ; Katsuhiko Noguchi ; Takashi Hashimoto ; Naoki Nakano ; Ryogen Sasaki ; Yasumasa Kokubo ; Shigeki Kuzuhara ; Kotaro Ogaki ; Chikara Yamashita ; Hiroyo Yoshino ; Taku Hatano ; Hiroyuki Tomiyama ; Nobutaka Hattori

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0393075

Descripteurs français

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

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease`
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A11	`14`	`1`		`@1 OGAKI (Kotaro)`
A11	`15`	`1`		`@1 YAMASHITA (Chikara)`
A11	`16`	`1`		`@1 YOSHINO (Hiroyo)`
A11	`17`	`1`		`@1 HATANO (Taku)`
A11	`18`	`1`		`@1 TOMIYAMA (Hiroyuki)`
A11	`19`	`1`		`@1 HATTORI (Nobutaka)`
A14	`01`			`@1 Department of Neurology, Juntendo University School of Medicine @2 Tokyo @3 JPN @Z 1 aut. @Z 2 aut. @Z 14 aut. @Z 15 aut. @Z 17 aut. @Z 18 aut. @Z 19 aut.`
A14	`02`			`@1 Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University @2 Tokyo @3 JPN @Z 2 aut. @Z 3 aut. @Z 16 aut. @Z 18 aut. @Z 19 aut.`
A14	`03`			`@1 Department of Neurology, Okayama Kyokuto Hospital @2 Okayama @3 JPN @Z 4 aut.`
A14	`04`			`@1 Department of Neurology, Saiseikai Kurihashi Hospital @2 Saitama @3 JPN @Z 5 aut.`
A14	`05`			`@1 Department of Neurology, Saitama National Hospital @2 Saitama @3 JPN @Z 6 aut.`
A14	`06`			`@1 Department of Neurology, Jikei Daisan Hospital @2 Tokyo @3 JPN @Z 7 aut.`
A14	`07`			`@1 Department of Neurology, Kakio Kinen Hospital @2 Tokyo @3 JPN @Z 8 aut.`
A14	`08`			`@1 Hashimoto Clinic @2 Osaka @3 JPN @Z 9 aut.`
A14	`09`			`@1 Department of Neurosurgery, Kinki University Hospital @2 Osaka @3 JPN @Z 10 aut.`
A14	`10`			`@1 Department of Neurology, Mie University Graduate School of Medicine @2 Tsu, Mie @3 JPN @Z 11 aut. @Z 12 aut.`
A14	`11`			`@1 Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science @2 Suzuka, Mie @3 JPN @Z 13 aut.`
A14	`12`			`@1 Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine @2 Tokyo @3 JPN @Z 19 aut.`
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A21				`@1 2012`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
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C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
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C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
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C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
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C03	`04`	`X`	`SPA`	`@0 Japonés @5 10`
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C03	`05`	`X`	`ENG`	`@0 Human @5 11`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 11`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
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Format Inist (serveur)

NO :	PASCAL 12-0393075 INIST
ET :	VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease
AU :	ANDO (Maya); FUNAYAMA (Manabu); YUANZHE LI; KASHIHARA (Kenichi); MURAKAMI (Yoshitake); ISHIZU (Nobutaka); TOYODA (Chizuko); NOGUCHI (Katsuhiko); HASHIMOTO (Takashi); NAKANO (Naoki); SASAKI (Ryogen); KOKUBO (Yasumasa); KUZUHARA (Shigeki); OGAKI (Kotaro); YAMASHITA (Chikara); YOSHINO (Hiroyo); HATANO (Taku); TOMIYAMA (Hiroyuki); HATTORI (Nobutaka)
AF :	Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 2 aut., 14 aut., 15 aut., 17 aut., 18 aut., 19 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (2 aut., 3 aut., 16 aut., 18 aut., 19 aut.); Department of Neurology, Okayama Kyokuto Hospital/Okayama/Japon (4 aut.); Department of Neurology, Saiseikai Kurihashi Hospital/Saitama/Japon (5 aut.); Department of Neurology, Saitama National Hospital/Saitama/Japon (6 aut.); Department of Neurology, Jikei Daisan Hospital/Tokyo/Japon (7 aut.); Department of Neurology, Kakio Kinen Hospital/Tokyo/Japon (8 aut.); Hashimoto Clinic/Osaka/Japon (9 aut.); Department of Neurosurgery, Kinki University Hospital/Osaka/Japon (10 aut.); Department of Neurology, Mie University Graduate School of Medicine/Tsu, Mie/Japon (11 aut., 12 aut.); Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science/Suzuka, Mie/Japon (13 aut.); Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine/Tokyo/Japon (19 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 11; Pp. 1413-1417; Bibl. 25 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Mutation; Japonais; Homme
FG :	Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Mutation; Japanese; Human
EG :	Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Mutación; Japonés; Hombre
LO :	INIST-20953.354000502036870170
ID :	12-0393075

Links to Exploration step

Pascal:12-0393075

Le document en format XML

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<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
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<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
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<author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name>
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<author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name>
<affiliation><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>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
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</inist:fA14>
</affiliation>
<affiliation><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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
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<idno type="inist">12-0393075</idno>
<date when="2012">2012</date>
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<idno type="wicri:Area/PascalFrancis/Corpus">000080</idno>
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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><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>
</affiliation>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<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>
</affiliation>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name>
<affiliation><inist:fA14 i1="03"><s1>Department of Neurology, Okayama Kyokuto Hospital</s1>
<s2>Okayama</s2>
<s3>JPN</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name>
<affiliation><inist:fA14 i1="04"><s1>Department of Neurology, Saiseikai Kurihashi Hospital</s1>
<s2>Saitama</s2>
<s3>JPN</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurology, Saitama National Hospital</s1>
<s2>Saitama</s2>
<s3>JPN</s3>
<sZ>6 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name>
<affiliation><inist:fA14 i1="06"><s1>Department of Neurology, Jikei Daisan Hospital</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurology, Kakio Kinen Hospital</s1>
<s2>Tokyo</s2>
<s3>JPN</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name>
<affiliation><inist:fA14 i1="08"><s1>Hashimoto Clinic</s1>
<s2>Osaka</s2>
<s3>JPN</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Neurosurgery, Kinki University Hospital</s1>
<s2>Osaka</s2>
<s3>JPN</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name>
<affiliation><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>
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<author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
<affiliation><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>
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<author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name>
<affiliation><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>
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</author>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<affiliation><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>
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<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation><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>
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<affiliation><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>
</affiliation>
<affiliation><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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<series><title level="j" type="main">Movement disorders</title>
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<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>
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<fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
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<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
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<fA14 i1="02"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1>
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<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Neurology, Okayama Kyokuto Hospital</s1>
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</fA14>
<fA14 i1="04"><s1>Department of Neurology, Saiseikai Kurihashi Hospital</s1>
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<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, Saitama National Hospital</s1>
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<fA14 i1="06"><s1>Department of Neurology, Jikei Daisan Hospital</s1>
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<fA14 i1="07"><s1>Department of Neurology, Kakio Kinen Hospital</s1>
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<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Hashimoto Clinic</s1>
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<sZ>9 aut.</sZ>
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<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>
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<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<fA14 i1="11"><s1>Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science</s1>
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<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>
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<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>
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<s5>09</s5>
</fC03>
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<s5>09</s5>
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<s5>09</s5>
</fC03>
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<s5>10</s5>
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<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Japonés</s0>
<s5>10</s5>
</fC03>
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<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>
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<s5>37</s5>
</fC07>
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<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>
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<server><NO>PASCAL 12-0393075 INIST</NO>
<ET>VPS35 Mutation in Japanese Patients with Typical Parkinson's Disease</ET>
<AU>ANDO (Maya); FUNAYAMA (Manabu); YUANZHE LI; KASHIHARA (Kenichi); MURAKAMI (Yoshitake); ISHIZU (Nobutaka); TOYODA (Chizuko); NOGUCHI (Katsuhiko); HASHIMOTO (Takashi); NAKANO (Naoki); SASAKI (Ryogen); KOKUBO (Yasumasa); KUZUHARA (Shigeki); OGAKI (Kotaro); YAMASHITA (Chikara); YOSHINO (Hiroyo); HATANO (Taku); TOMIYAMA (Hiroyuki); HATTORI (Nobutaka)</AU>
<AF>Department of Neurology, Juntendo University School of Medicine/Tokyo/Japon (1 aut., 2 aut., 14 aut., 15 aut., 17 aut., 18 aut., 19 aut.); Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University/Tokyo/Japon (2 aut., 3 aut., 16 aut., 18 aut., 19 aut.); Department of Neurology, Okayama Kyokuto Hospital/Okayama/Japon (4 aut.); Department of Neurology, Saiseikai Kurihashi Hospital/Saitama/Japon (5 aut.); Department of Neurology, Saitama National Hospital/Saitama/Japon (6 aut.); Department of Neurology, Jikei Daisan Hospital/Tokyo/Japon (7 aut.); Department of Neurology, Kakio Kinen Hospital/Tokyo/Japon (8 aut.); Hashimoto Clinic/Osaka/Japon (9 aut.); Department of Neurosurgery, Kinki University Hospital/Osaka/Japon (10 aut.); Department of Neurology, Mie University Graduate School of Medicine/Tsu, Mie/Japon (11 aut., 12 aut.); Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science/Suzuka, Mie/Japon (13 aut.); Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine/Tokyo/Japon (19 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 11; Pp. 1413-1417; Bibl. 25 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Mutation; Japonais; Homme</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du   système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Mutation; Japanese; Human</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Mutación; Japonés; Hombre</SD>
<LO>INIST-20953.354000502036870170</LO>
<ID>12-0393075</ID>
</server>
</inist>
</record>

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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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