MovDisordV3, Main, Exploration, bibRecord, 001027

Phenotypic Variability of parkin Mutations in Single Kindred

Identifieur interne : 001027 ( Main/Exploration ); précédent : 001026; suivant : 001028

Phenotypic Variability of parkin Mutations in Single Kindred

Auteurs : Brianada Koentjoro [Australie] ; Jin-Sung Park [Australie] ; Ainhi Duy Ha [Australie] ; Carolyn M. Sue [Australie]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0369638

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Parkinsonisme, Pathologie du système nerveux, Variabilité, Parkine, Mutation.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Parkin, Parkinson disease, Parkinsonism, Variability.

Abstract

Background: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. Methods: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western blotting. Results: The proband was a compound heterozygote with no detectable Parkin and presented with early-onset PD. The father, a single heterozygote with reduced expression of Parkin, had mild loss of arm swing. The mother, who had only very mild rigidity, was unexpectedly found to be a homozygote with no Parkin expression. The proband, but not the parents, met the Queen Square Brain Bank criteria for PD. Parkin-dependent ubiquitination of Mitofusin 2 was impaired in the mother and the proband. Conclusion: We report the first case of a homozygous mutation carrier in parkin who had no functional protein and only mild signs of parkinsonism in her seventh decade, whereas her daughter developed typical early-onset PD. This family demonstrates phenotypic variability in parkin-related parkinsonism.

Affiliations:

Australie

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

to stream PascalFrancis, to step Corpus: 000088
to stream PascalFrancis, to step Curation: 002C26
to stream PascalFrancis, to step Checkpoint: 000100
to stream Main, to step Merge: 001079
to stream Main, to step Curation: 001027

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</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: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. Methods: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western blotting. Results: The proband was a compound heterozygote with no detectable Parkin and presented with early-onset PD. The father, a single heterozygote with reduced expression of Parkin, had mild loss of arm swing. The mother, who had only very mild rigidity, was unexpectedly found to be a homozygote with no Parkin expression. The proband, but not the parents, met the Queen Square Brain Bank criteria for PD. Parkin-dependent ubiquitination of Mitofusin 2 was impaired in the mother and the proband. Conclusion: We report the first case of a homozygous mutation carrier in parkin who had no functional protein and only mild signs of parkinsonism in her seventh decade, whereas her daughter developed typical early-onset PD. This family demonstrates phenotypic variability in parkin-related parkinsonism.</div>
</front>
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<tree><country name="Australie"><noRegion><name sortKey="Koentjoro, Brianada" sort="Koentjoro, Brianada" uniqKey="Koentjoro B" first="Brianada" last="Koentjoro">Brianada Koentjoro</name>
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<name sortKey="Duy Ha, Ainhi" sort="Duy Ha, Ainhi" uniqKey="Duy Ha A" first="Ainhi" last="Duy Ha">Ainhi Duy Ha</name>
<name sortKey="Park, Jin Sung" sort="Park, Jin Sung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name>
<name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
<name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic Variability of parkin Mutations in Single Kindred

Phenotypic Variability of parkin Mutations in Single Kindred

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