MovDisordV3, Main, Exploration, bibRecord, 001236

A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity

Identifieur interne : 001236 ( Main/Exploration ); précédent : 001235; suivant : 001237

A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity

Auteurs : JI SUN KIM [Corée du Sud] ; JIN WHAN CHO [Corée du Sud] ; Hyeeun Shin [Corée du Sud] ; WON YONG LEE [Corée du Sud] ; Chang-Seok Ki [Corée du Sud] ; AH RA CHO [Corée du Sud] ; Hee-Tae Kim [Corée du Sud]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0113808

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Coréen, Mutation, Hétérogénéité, Leucine, Kinase.

English descriptors

KwdEn :
- Heterogeneity, Kinase, Korean, Leucine, Mutation, Nervous system diseases, Parkinson disease.

Abstract

Background: Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies. Methods: We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family. Results: Although the clinical findings of these patients were indistinguishable from those of patients with sporadic PD, the patients with the p.Tyr1699Cys mutation demonstrated clinical heterogeneity including differences in age at onset, rate of disease progression, clinical phenotype, and prognosis. Conclusions: This is the first report describing an Asian PD family with the p.Tyr1699Cys mutation in LRRK2. The affected members of this family showed clinical heterogeneity.

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity</title>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Nervous system diseases</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
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<front><div type="abstract" xml:lang="en">Background: Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies. Methods: We identified a large Korean PD family with the p.Tyr1699Cys mutation in LRRK2 and analyzed genealogical, clinical, and genetic data from the family. Results: Although the clinical findings of these patients were indistinguishable from those of patients with sporadic PD, the patients with the p.Tyr1699Cys mutation demonstrated clinical heterogeneity including differences in age at onset, rate of disease progression, clinical phenotype, and prognosis. Conclusions: This is the first report describing an Asian PD family with the p.Tyr1699Cys mutation in LRRK2. The affected members of this family showed clinical heterogeneity.</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity

A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical Heterogeneity

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