Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study
Identifieur interne : 002C91 ( Main/Exploration ); précédent : 002C90; suivant : 002C92Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study
Auteurs : Maria Teresa Pellecchia [Italie] ; Andrea Varrone [Italie] ; Grazia Annesi [Italie] ; Marianna Amboni [Italie] ; Giulio Cicarelli [Italie] ; Valeria Sansone [Italie] ; Ferdinanda Annesi [Italie] ; Francesca Emanuela Rocca [Italie] ; Carmine Vitale [Italie] ; Sabina Pappatà [Italie] ; Aldo Quattrone [Italie] ; Paolo Barone [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-03-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Corpus Striatum (metabolism), Corpus Striatum (physiopathology), Diagnosis, Differential, Essential Tremor (diagnosis), Essential Tremor (genetics), Essential Tremor (physiopathology), FP‐CIT SPECT, Genes, Dominant (genetics), Humans, Iodine Radioisotopes (diagnostic use), Iodine Radioisotopes (pharmacokinetics), Mutation, Missense (genetics), Nervous system diseases, Parkin, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (physiopathology), Parkinsonism, Pedigree, Phenotype, Photon, Point Mutation (genetics), Polymerase Chain Reaction, Single photon emission tomography, Substantia Nigra (metabolism), Substantia Nigra (physiopathology), Tomography, Emission-Computed, Single-Photon, Tremor, Tropanes (diagnostic use), Tropanes (pharmacokinetics), Ubiquitin-Protein Ligases (genetics), essential tremor, parkin.
- 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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21262
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003009
- to stream Istex, to step Curation: 003009
- to stream Istex, to step Checkpoint: 001799
- to stream PubMed, to step Corpus: 002942
- to stream PubMed, to step Curation: 002942
- to stream PubMed, to step Checkpoint: 002663
- to stream Ncbi, to step Merge: 001997
- to stream Ncbi, to step Curation: 001997
- to stream Ncbi, to step Checkpoint: 001997
- to stream Main, to step Merge: 003C13
- to stream PascalFrancis, to step Corpus: 001743
- to stream PascalFrancis, to step Curation: 001578
- to stream PascalFrancis, to step Checkpoint: 001550
- to stream Main, to step Merge: 004140
- to stream Main, to step Curation: 002C91
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study</title><author><name sortKey="Pellecchia, Maria Teresa" sort="Pellecchia, Maria Teresa" uniqKey="Pellecchia M" first="Maria Teresa" last="Pellecchia">Maria Teresa Pellecchia</name></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name></author><author><name sortKey="Cicarelli, Giulio" sort="Cicarelli, Giulio" uniqKey="Cicarelli G" first="Giulio" last="Cicarelli">Giulio Cicarelli</name></author><author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name></author><author><name sortKey="Rocca, Francesca Emanuela" sort="Rocca, Francesca Emanuela" uniqKey="Rocca F" first="Francesca Emanuela" last="Rocca">Francesca Emanuela Rocca</name></author><author><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author><author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:DF9E2A287CD6A455BE6FF0032926801A3AD0A340</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21262</idno><idno type="url">https://api.istex.fr/document/DF9E2A287CD6A455BE6FF0032926801A3AD0A340/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003009</idno><idno type="wicri:Area/Istex/Curation">003009</idno><idno type="wicri:Area/Istex/Checkpoint">001799</idno><idno type="wicri:doubleKey">0885-3185:2007:Pellecchia M:parkinsonism:and:essential</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:17149727</idno><idno type="wicri:Area/PubMed/Corpus">002942</idno><idno type="wicri:Area/PubMed/Curation">002942</idno><idno type="wicri:Area/PubMed/Checkpoint">002663</idno><idno type="wicri:Area/Ncbi/Merge">001997</idno><idno type="wicri:Area/Ncbi/Curation">001997</idno><idno type="wicri:Area/Ncbi/Checkpoint">001997</idno><idno type="wicri:doubleKey">0885-3185:2007:Pellecchia M:parkinsonism:and:essential</idno><idno type="wicri:Area/Main/Merge">003C13</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:07-0210959</idno><idno type="wicri:Area/PascalFrancis/Corpus">001743</idno><idno type="wicri:Area/PascalFrancis/Curation">001578</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001550</idno><idno type="wicri:doubleKey">0885-3185:2007:Pellecchia M:parkinsonism:and:essential</idno><idno type="wicri:Area/Main/Merge">004140</idno><idno type="wicri:Area/Main/Curation">002C91</idno><idno type="wicri:Area/Main/Exploration">002C91</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study</title><author><name sortKey="Pellecchia, Maria Teresa" sort="Pellecchia, Maria Teresa" uniqKey="Pellecchia M" first="Maria Teresa" last="Pellecchia">Maria Teresa Pellecchia</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, National Research Council, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Cicarelli, Giulio" sort="Cicarelli, Giulio" uniqKey="Cicarelli G" first="Giulio" last="Cicarelli">Giulio Cicarelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, National Research Council, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Rocca, Francesca Emanuela" sort="Rocca, Francesca Emanuela" uniqKey="Rocca F" first="Francesca Emanuela" last="Rocca">Francesca Emanuela Rocca</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, National Research Council, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea><wicri:noRegion>Cosenza</wicri:noRegion></affiliation><affiliation><wicri:noCountry code="subField">Catanzaro</wicri:noCountry></affiliation></author><author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-03-15">2007-03-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="559">559</biblScope><biblScope unit="page" to="563">563</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">DF9E2A287CD6A455BE6FF0032926801A3AD0A340</idno><idno type="DOI">10.1002/mds.21262</idno><idno type="ArticleID">MDS21262</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Corpus Striatum (metabolism)</term><term>Corpus Striatum (physiopathology)</term><term>Diagnosis, Differential</term><term>Essential Tremor (diagnosis)</term><term>Essential Tremor (genetics)</term><term>Essential Tremor (physiopathology)</term><term>FP‐CIT SPECT</term><term>Genes, Dominant (genetics)</term><term>Humans</term><term>Iodine Radioisotopes (diagnostic use)</term><term>Iodine Radioisotopes (pharmacokinetics)</term><term>Mutation, Missense (genetics)</term><term>Nervous system diseases</term><term>Parkin</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (physiopathology)</term><term>Parkinsonism</term><term>Pedigree</term><term>Phenotype</term><term>Photon</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Single photon emission tomography</term><term>Substantia Nigra (metabolism)</term><term>Substantia Nigra (physiopathology)</term><term>Tomography, Emission-Computed, Single-Photon</term><term>Tremor</term><term>Tropanes (diagnostic use)</term><term>Tropanes (pharmacokinetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>essential tremor</term><term>parkin</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Iodine Radioisotopes</term><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Genes, Dominant</term><term>Mutation, Missense</term><term>Parkinsonian Disorders</term><term>Point Mutation</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Corpus Striatum</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" type="chemical" qualifier="pharmacokinetics" xml:lang="en"><term>Iodine Radioisotopes</term><term>Tropanes</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Corpus Striatum</term><term>Essential Tremor</term><term>Parkinsonian Disorders</term><term>Substantia Nigra</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Diagnosis, Differential</term><term>Humans</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Tomography, Emission-Computed, Single-Photon</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkine</term><term>Parkinsonisme</term><term>Photon</term><term>Système nerveux pathologie</term><term>Tomoscintigraphie émission monophotonique</term><term>Tremblement</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">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. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Pellecchia, Maria Teresa" sort="Pellecchia, Maria Teresa" uniqKey="Pellecchia M" first="Maria Teresa" last="Pellecchia">Maria Teresa Pellecchia</name></noRegion><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name><name sortKey="Cicarelli, Giulio" sort="Cicarelli, Giulio" uniqKey="Cicarelli G" first="Giulio" last="Cicarelli">Giulio Cicarelli</name><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Rocca, Francesca Emanuela" sort="Rocca, Francesca Emanuela" uniqKey="Rocca F" first="Francesca Emanuela" last="Rocca">Francesca Emanuela Rocca</name><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name><name sortKey="Varrone, Andrea" sort="Varrone, Andrea" uniqKey="Varrone A" first="Andrea" last="Varrone">Andrea Varrone</name><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002C91 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002C91 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:DF9E2A287CD6A455BE6FF0032926801A3AD0A340
|texte= Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study
}}
| This area was generated with Dilib version V0.6.23. |  |