MovDisordV3, Main, Exploration, bibRecord, 003399

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Identifieur interne : 003399 ( Main/Exploration ); précédent : 003398; suivant : 003400

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Auteurs : Cindy Zadikoff [Canada] ; Ekaterina Rogaeva [Canada] ; Ana Djarmati [Allemagne] ; Christine Sato [Canada] ; Shabnam Salehi-Rad [Canada] ; Peter St. George-Hyslop [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-06-06.

RBID : ISTEX:924B8B9BDFE408E924AEB168303FF3B49C4EE431

Descripteurs français

Pascal (Inist)
- Diagnostic, Homme, Homozygotie, Mutation, Parkinson maladie, Soin, Système nerveux pathologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adult, Care, Codon, Nonsense, Diagnosis, Heterozygote Detection, Homozygosity, Homozygote, Human, Humans, Male, Middle Aged, Mutation, Mutation, Missense, Nervous system diseases, PINK1, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinson Disease (therapy), Parkinson disease, Parkinson's disease, Protein Kinases (genetics), gene, mutation.
MESH :
- chemical , genetics : Protein Kinases.
- chemical : Codon, Nonsense.
- diagnosis : Parkinson Disease.
- genetics : Parkinson Disease.
- therapy : Parkinson Disease.
- Adult, Heterozygote Detection, Homozygote, Humans, Male, Middle Aged, Mutation, Missense.

Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/924B8B9BDFE408E924AEB168303FF3B49C4EE431/fulltext/pdf

DOI: 10.1002/mds.20854

Affiliations:

Allemagne, Canada

Le document en format XML

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<term>Homozygosity</term>
<term>Homozygote</term>
<term>Human</term>
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<front><div type="abstract" xml:lang="en">The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society</div>
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Movement Disorders (revue)

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

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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