ParkinsonFranceV1, PascalFrancis, Curation, bibRecord, 000906

Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

Identifieur interne : 000906 ( PascalFrancis/Curation ); précédent : 000905; suivant : 000907

Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

Auteurs : Anne-Louise Leutenegger [France] ; Mustafa A. M. Salih [Arabie saoudite] ; Pablo Ibanez [France] ; Maowia M. Mukhtar [Soudan] ; Suzanne Lesage [France] ; All Arabi [Soudan] ; Ebba Lohmann [France] ; Alexandra Dürr [France] ; Ammar E. M. Ahmed [Soudan] ; Alexis Brice [France]

Source :

Archives of neurology : (Chicago) [ 0003-9942 ] ; 2006.

RBID : Pascal:06-0451706

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Mutation, Adénosine, Orientation.

English descriptors

KwdEn :
- Adenosine, Mutation, Nervous system diseases, Orientation, Parkinsonism.

Abstract

Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.

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A08	`01`	`1`	`ENG`	`@1 Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1`
A11	`01`	`1`		`@1 LEUTENEGGER (Anne-Louise)`
A11	`02`	`1`		`@1 SALIH (Mustafa A. M.)`
A11	`03`	`1`		`@1 IBANEZ (Pablo)`
A11	`04`	`1`		`@1 MUKHTAR (Maowia M.)`
A11	`05`	`1`		`@1 LESAGE (Suzanne)`
A11	`06`	`1`		`@1 ARABI (All)`
A11	`07`	`1`		`@1 LOHMANN (Ebba)`
A11	`08`	`1`		`@1 DÜRR (Alexandra)`
A11	`09`	`1`		`@1 AHMED (Ammar E. M.)`
A11	`10`	`1`		`@1 BRICE (Alexis)`
A14	`01`			`@1 Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière @3 FRA @Z 1 aut. @Z 3 aut. @Z 5 aut. @Z 7 aut. @Z 8 aut. @Z 10 aut.`
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A14	`04`			`@1 Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University @2 Riyadh @3 SAU @Z 2 aut.`
A14	`05`			`@1 Institute of Endemic Diseases, Faculty of Medicine, University of Khartoum @2 Khartoum @3 SDN @Z 4 aut.`
A14	`06`			`@1 Department of Pediatrics, Faculty of Medicine, University of Khartoum @2 Khartoum @3 SDN @Z 6 aut.`
A14	`07`			`@1 Département de Génétique, Cytogénétique et Embryologie @3 FRA @Z 8 aut. @Z 10 aut.`
A14	`08`			`@1 Department of Physiology, Faculty of Medicine, University of Khartoum @2 Khartoum @3 SDN @Z 9 aut.`
A14	`09`			`@1 Fédération de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP @2 Paris @3 FRA @Z 10 aut.`
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A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 2048B @5 354000157190580060`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 Archives of neurology : (Chicago)`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`03`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`03`	`X`	`SPA`	`@0 Mutación @5 09`
C03	`04`	`X`	`FRE`	`@0 Adénosine @2 NK @2 FR @5 10`
C03	`04`	`X`	`ENG`	`@0 Adenosine @2 NK @2 FR @5 10`
C03	`04`	`X`	`SPA`	`@0 Adenosina @2 NK @2 FR @5 10`
C03	`05`	`X`	`FRE`	`@0 Orientation @5 11`
C03	`05`	`X`	`ENG`	`@0 Orientation @5 11`
C03	`05`	`X`	`SPA`	`@0 Orientación @5 11`
N21				`@1 296`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

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Pascal:06-0451706

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1</title>
<author><name sortKey="Leutenegger, Anne Louise" sort="Leutenegger, Anne Louise" uniqKey="Leutenegger A" first="Anne-Louise" last="Leutenegger">Anne-Louise Leutenegger</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institut National de la Santé et de la Recherche Médicale (INSERM) U679 Hôpital de la Pitié-Salpêtrière</s1>
<s3>FRA</s3>
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<author><name sortKey="Salih, Mustafa A M" sort="Salih, Mustafa A M" uniqKey="Salih M" first="Mustafa A. M." last="Salih">Mustafa A. M. Salih</name>
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<author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M." last="Mukhtar">Maowia M. Mukhtar</name>
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<author><name sortKey="Ahmed, Ammar E M" sort="Ahmed, Ammar E M" uniqKey="Ahmed A" first="Ammar E. M." last="Ahmed">Ammar E. M. Ahmed</name>
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<front><div type="abstract" xml:lang="en">Background: Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at lp36 have been involved in autosomal recessive early-onset parkinsonism. Objective: To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. Design: Clinical and genetic study. Setting: Collaborative study. Patients: Eight patients from Sudan with particularly early onset (ages 9-17 years) and phenotypes varying from dopa-responsive dystonia-like to typical early-onset parkinsonism. Main Outcome Measures: The PINK1 genotype and Parkinson disease status of all available family members. Results: The disease was caused by a novel mutation, p.A217D, located in the highly conserved adenosine triphosphate orientation site of the PINK1 kinase domain. Conclusion: This study extends the phenotypic and molecular spectrum of the PINK1 gene and the geographic origin of patients with PINK1 gene mutations.</div>
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	La maladie de Parkinson en France (serveur d'exploration)
	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.

La maladie de Parkinson en France (serveur d'exploration)

Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

Juvenile-onset parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1

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