Parkinsonism and essential tremor in a family with pseudo‐dominant inheritance of PARK2: An FP‐CIT SPECT study
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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.
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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
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DOI: 10.1002/mds.21262
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Cosenza</wicri:regionArea></affiliation></author><author><name sortKey="Amboni, Marianna" sort="Amboni, Marianna" uniqKey="Amboni M" first="Marianna" last="Amboni">Marianna Amboni</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Cicarelli, Giulio" sort="Cicarelli, Giulio" uniqKey="Cicarelli G" first="Giulio" last="Cicarelli">Giulio Cicarelli</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Sansone, Valeria" sort="Sansone, Valeria" uniqKey="Sansone V" first="Valeria" last="Sansone">Valeria Sansone</name><affiliation wicri:level="1"><mods:affiliation>Biostructure and Bioimaging Institute, National Research Council, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, National Research Council, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><affiliation wicri:level="1"><mods:affiliation>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea></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"><mods:affiliation>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea></affiliation></author><author><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappatà">Sabina Pappatà</name><affiliation wicri:level="1"><mods:affiliation>Biostructure and Bioimaging Institute, National Research Council, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Biostructure and Bioimaging Institute, National Research Council, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><mods:affiliation>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurological Sciences, National Research Council, Mangone, Cosenza</wicri:regionArea></affiliation><affiliation><mods:affiliation>Institute of Neurology, University of Magna Graecia, Catanzaro</mods: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"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></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>FP‐CIT SPECT</term><term>Parkinsonism</term><term>essential tremor</term><term>parkin</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></record>Pour manipuler ce document sous Unix (Dilib)
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