Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
Identifieur interne : 002942 ( PubMed/Corpus ); précédent : 002941; suivant : 002943Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: an FP-CIT SPECT study.
Auteurs : Maria Teresa Pellecchia ; Andrea Varrone ; Grazia Annesi ; Marianna Amboni ; Giulio Cicarelli ; Valeria Sansone ; Ferdinanda Annesi ; Francesca Emanuela Rocca ; Carmine Vitale ; Sabina Pappatà ; Aldo Quattrone ; Paolo BaroneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Corpus Striatum (metabolism), Corpus Striatum (physiopathology), Diagnosis, Differential, Essential Tremor (diagnosis), Essential Tremor (genetics), Essential Tremor (physiopathology), Genes, Dominant (genetics), Humans, Iodine Radioisotopes (diagnostic use), Iodine Radioisotopes (pharmacokinetics), Mutation, Missense (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Pedigree, Phenotype, Point Mutation (genetics), Polymerase Chain Reaction, Substantia Nigra (metabolism), Substantia Nigra (physiopathology), Tomography, Emission-Computed, Single-Photon, Tropanes (diagnostic use), Tropanes (pharmacokinetics), Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , diagnostic use : Iodine Radioisotopes, Tropanes.
- diagnosis : Essential Tremor, Parkinsonian Disorders.
- genetics : Essential Tremor, Genes, Dominant, Mutation, Missense, Parkinsonian Disorders, Point Mutation, Ubiquitin-Protein Ligases.
- metabolism : Corpus Striatum, Substantia Nigra.
- chemical , pharmacokinetics : Iodine Radioisotopes, Tropanes.
- physiopathology : Corpus Striatum, Essential Tremor, Parkinsonian Disorders, Substantia Nigra.
- Diagnosis, Differential, Humans, Pedigree, Phenotype, Polymerase Chain Reaction, Tomography, Emission-Computed, Single-Photon.
Abstract
We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.
DOI: 10.1002/mds.21262
PubMed: 17149727
Links to Exploration step
pubmed:17149727Le document en format XML
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<author><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name>
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<author><name sortKey="Cicarelli, Giulio" sort="Cicarelli, Giulio" uniqKey="Cicarelli G" first="Giulio" last="Cicarelli">Giulio Cicarelli</name>
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<author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name>
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<author><name sortKey="Rocca, Francesca Emanuela" sort="Rocca, Francesca Emanuela" uniqKey="Rocca F" first="Francesca Emanuela" last="Rocca">Francesca Emanuela Rocca</name>
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<term>Essential Tremor (genetics)</term>
<term>Essential Tremor (physiopathology)</term>
<term>Genes, Dominant (genetics)</term>
<term>Humans</term>
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<term>Point Mutation (genetics)</term>
<term>Polymerase Chain Reaction</term>
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<term>Substantia Nigra (physiopathology)</term>
<term>Tomography, Emission-Computed, Single-Photon</term>
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<term>Ubiquitin-Protein Ligases (genetics)</term>
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<term>Substantia Nigra</term>
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<term>Humans</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.</div>
</front>
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<Abstract><AbstractText>We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudo-dominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kinetic tremor mimicking ET was the only feature in 1 homozygous and 2 heterozygous carriers of the mutation. Striatal dopamine transporter density was reduced in accordance with phenotype and number of mutated alleles. In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit.</AbstractText>
<CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation>
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