MovDisordV3, Main, Exploration, bibRecord, 002846

Familial Parkinsonism with digenic parkin and PINK1 mutations

Identifieur interne : 002846 ( Main/Exploration ); précédent : 002845; suivant : 002847

Familial Parkinsonism with digenic parkin and PINK1 mutations

Auteurs : Manabu Funayama [Japon] ; Yuanzhe Li [Japon] ; Tak-Hong Tsoi [République populaire de Chine] ; Ching-Wan Lam [République populaire de Chine] ; Takekazu Ohi [Japon] ; Shogo Yazawa [Japon] ; Eiichiro Uyama [Japon] ; Ruth Djaldetti [Israël] ; Eldad Melamed [Israël] ; Hiroyo Yoshino [Japon] ; Yoko Imamichi [Japon] ; Hiroshi Takashima [Japon] ; Kenya Nishioka [Japon] ; Kenichi Sato [Japon] ; Hiroyuki Tomiyama [Japon] ; Shin-Ichiro Kubo [Japon] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-07-30.

RBID : ISTEX:F665024C7A04E8BF84C3079B35AA86BCE473AD20

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Mutation, Parkine, Parkinsonisme, Pathologie du système nerveux, Trouble psychiatrique.
Wicri :
- geographic : Japon.

English descriptors

KwdEn :
- Adolescent, Adult, Age of Onset, Aged, DNA Mutational Analysis, Ethnic Groups (genetics), Female, Genotype, Humans, Japan (epidemiology), Male, Mental disorder, Middle Aged, Mutagenesis, Insertional, Mutation, Mutation, Missense, Nervous system diseases, PINK1, Parkin, Parkinson Disease (complications), Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Parkinsonism, Point Mutation, Protein Kinases (genetics), Schizophrenia (complications), Schizophrenia (ethnology), Schizophrenia (genetics), Ubiquitin-Protein Ligases (genetics), digenic, parkin, psychiatric disorder.
MESH :
- chemical , genetics : Protein Kinases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Japan.
- complications : Parkinson Disease, Schizophrenia.
- ethnology : Parkinson Disease, Schizophrenia.
- genetics : Ethnic Groups, Parkinson Disease, Schizophrenia.
- Adolescent, Adult, Age of Onset, Aged, DNA Mutational Analysis, Female, Genotype, Humans, Male, Middle Aged, Mutagenesis, Insertional, Mutation, Mutation, Missense, Point Mutation.

Abstract

To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation‐positive Parkinsonism, and PINK1 mutations might be associated withpsychiatric disorders. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/F665024C7A04E8BF84C3079B35AA86BCE473AD20/fulltext/pdf

DOI: 10.1002/mds.22143

Affiliations:

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="Uyama, Eiichiro" sort="Uyama, Eiichiro" uniqKey="Uyama E" first="Eiichiro" last="Uyama">Eiichiro Uyama</name>
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<author><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
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<author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name>
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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="Kubo, Shin Chiro" sort="Kubo, Shin Chiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
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<author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<wicri:regionArea>Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo‐Ku, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Ethnic Groups (genetics)</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Japan (epidemiology)</term>
<term>Male</term>
<term>Mental disorder</term>
<term>Middle Aged</term>
<term>Mutagenesis, Insertional</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Nervous system diseases</term>
<term>PINK1</term>
<term>Parkin</term>
<term>Parkinson Disease (complications)</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Parkinsonism</term>
<term>Point Mutation</term>
<term>Protein Kinases (genetics)</term>
<term>Schizophrenia (complications)</term>
<term>Schizophrenia (ethnology)</term>
<term>Schizophrenia (genetics)</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
<term>digenic</term>
<term>parkin</term>
<term>psychiatric disorder</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term>
<term>Schizophrenia</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term>
<term>Schizophrenia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ethnic Groups</term>
<term>Parkinson Disease</term>
<term>Schizophrenia</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutagenesis, Insertional</term>
<term>Mutation</term>
<term>Mutation, Missense</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Mutation</term>
<term>Parkine</term>
<term>Parkinsonisme</term>
<term>Pathologie du   système nerveux</term>
<term>Trouble psychiatrique</term>
</keywords>
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<front><div type="abstract" xml:lang="en">To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation‐positive Parkinsonism, and PINK1 mutations might be associated withpsychiatric disorders. © 2008 Movement Disorder Society</div>
</front>
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<affiliations><list><country><li>Israël</li>
<li>Japon</li>
<li>République populaire de Chine</li>
</country>
<settlement><li>Sha Tin</li>
<li>Tokyo</li>
</settlement>
<orgName><li>Université chinoise de Hong Kong</li>
</orgName>
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<tree><country name="Japon"><noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
</noRegion>
<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="Imamichi, Yoko" sort="Imamichi, Yoko" uniqKey="Imamichi Y" first="Yoko" last="Imamichi">Yoko Imamichi</name>
<name sortKey="Kubo, Shin Chiro" sort="Kubo, Shin Chiro" uniqKey="Kubo S" first="Shin-Ichiro" last="Kubo">Shin-Ichiro Kubo</name>
<name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
<name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name>
<name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name>
<name sortKey="Ohi, Takekazu" sort="Ohi, Takekazu" uniqKey="Ohi T" first="Takekazu" last="Ohi">Takekazu Ohi</name>
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<name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</country>
<country name="République populaire de Chine"><noRegion><name sortKey="Tsoi, Tak Ong" sort="Tsoi, Tak Ong" uniqKey="Tsoi T" first="Tak-Hong" last="Tsoi">Tak-Hong Tsoi</name>
</noRegion>
<name sortKey="Lam, Ching An" sort="Lam, Ching An" uniqKey="Lam C" first="Ching-Wan" last="Lam">Ching-Wan Lam</name>
</country>
<country name="Israël"><noRegion><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
</noRegion>
<name sortKey="Melamed, Eldad" sort="Melamed, Eldad" uniqKey="Melamed E" first="Eldad" last="Melamed">Eldad Melamed</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Familial Parkinsonism with digenic parkin and PINK1 mutations

Familial Parkinsonism with digenic parkin and PINK1 mutations

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.