MovDisordV3, Main, Exploration, bibRecord, 003297

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

Identifieur interne : 003297 ( Main/Exploration ); précédent : 003296; suivant : 003298

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

Auteurs : Chiara Criscuolo [Italie] ; Giampiero Volpe [Italie] ; Anna De Rosa [Italie] ; Andrea Varrone [Italie] ; Roberta Marongiu [Italie] ; Pietro Mancini [Italie] ; Elena Salvatore [Italie] ; Bruno Dallapiccola [Italie] ; Alessandro Filla [Italie] ; Enza Maria Valente [Italie] ; Giuseppe De Michele [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-08.

RBID : ISTEX:DF4E4156427C5548D81D2BF67861751258539362

Descripteurs français

Pascal (Inist)
- Homme, Homozygotie, Mutation, Parkinsonisme, Système nerveux pathologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Age of Onset, Female, Homozygosity, Homozygote, Human, Humans, Male, Middle Aged, Mutation, Nervous system diseases, PARK6, PINK1, Parkinson Disease (genetics), Parkinsonism, Pedigree, Protein Kinases (genetics), early onset, familial Parkinsonism.
MESH :
- chemical , genetics : Protein Kinases.
- genetics : Parkinson Disease.
- Age of Onset, Female, Homozygote, Humans, Male, Middle Aged, Mutation, Pedigree.

Abstract

We analyzed the PINK1 gene in 58 patients with early‐onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/DF4E4156427C5548D81D2BF67861751258539362/fulltext/pdf

DOI: 10.1002/mds.20933

Affiliations:

Le document en format XML

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<author><name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name>
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<author><name sortKey="De Rosa, Anna" sort="De Rosa, Anna" uniqKey="De Rosa A" first="Anna" last="De Rosa">Anna De Rosa</name>
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<author><name sortKey="Marongiu, Roberta" sort="Marongiu, Roberta" uniqKey="Marongiu R" first="Roberta" last="Marongiu">Roberta Marongiu</name>
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<front><div type="abstract" xml:lang="en">We analyzed the PINK1 gene in 58 patients with early‐onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission. © 2006 Movement Disorder Society</div>
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<name sortKey="Marongiu, Roberta" sort="Marongiu, Roberta" uniqKey="Marongiu R" first="Roberta" last="Marongiu">Roberta Marongiu</name>
<name sortKey="Salvatore, Elena" sort="Salvatore, Elena" uniqKey="Salvatore E" first="Elena" last="Salvatore">Elena Salvatore</name>
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<name sortKey="Volpe, Giampiero" sort="Volpe, Giampiero" uniqKey="Volpe G" first="Giampiero" last="Volpe">Giampiero Volpe</name>
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Movement Disorders (revue)

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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