MovDisordV3, PascalFrancis, Corpus, bibRecord, 001743

Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study

Identifieur interne : 001743 ( PascalFrancis/Corpus ); précédent : 001742; suivant : 001744

Parkinsonism 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 Pappata ; Aldo Quattrone ; Paolo Barone

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0210959

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinsonisme, Tremblement, Tomoscintigraphie émission monophotonique, Photon, Parkine.

English descriptors

KwdEn :
- Nervous system diseases, Parkin, Parkinsonism, Photon, Single photon emission tomography, Tremor.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 4`
A08	`01`	`1`	`ENG`	`@1 Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study`
A11	`01`	`1`		`@1 PELLECCHIA (Maria Teresa)`
A11	`02`	`1`		`@1 VARRONE (Andrea)`
A11	`03`	`1`		`@1 ANNESI (Grazia)`
A11	`04`	`1`		`@1 AMBONI (Marianna)`
A11	`05`	`1`		`@1 CICARELLI (Giulio)`
A11	`06`	`1`		`@1 SANSONE (Valeria)`
A11	`07`	`1`		`@1 ANNESI (Ferdinanda)`
A11	`08`	`1`		`@1 ROCCA (Francesca Emanuela)`
A11	`09`	`1`		`@1 VITALE (Carmine)`
A11	`10`	`1`		`@1 PAPPATA (Sabina)`
A11	`11`	`1`		`@1 QUATTRONE (Aldo)`
A11	`12`	`1`		`@1 BARONE (Paolo)`
A14	`01`			`@1 Department of Neurological Sciences, University Federico II @2 Napoli @3 ITA @Z 1 aut. @Z 4 aut. @Z 5 aut. @Z 9 aut. @Z 12 aut.`
A14	`02`			`@1 Biostructure and Bioimaging Institute, National Research Council @2 Napoli @3 ITA @Z 2 aut. @Z 6 aut. @Z 10 aut.`
A14	`03`			`@1 Institute of Neurological Sciences, National Research Council @2 Mangone, Cosenza @3 ITA @Z 3 aut. @Z 7 aut. @Z 8 aut. @Z 11 aut.`
A14	`04`			`@1 Institute of Neurology, University of Magna Graecia @2 Catanzaro @3 ITA @Z 11 aut.`
A20				`@1 559-563`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000145702210180`
A44				`@0 0000 @1 © 2007 INIST-CNRS. All rights reserved.`
A45				`@0 16 ref.`
A47	`01`	`1`		`@0 07-0210959`
A60				`@1 P @3 CC`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17A01`
C03	`01`	`X`	`FRE`	`@0 Système nerveux pathologie @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Parkinsonisme @2 NM @5 02`
C03	`02`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 02`
C03	`02`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 02`
C03	`03`	`X`	`FRE`	`@0 Tremblement @5 03`
C03	`03`	`X`	`ENG`	`@0 Tremor @5 03`
C03	`03`	`X`	`SPA`	`@0 Temblor @5 03`
C03	`04`	`X`	`FRE`	`@0 Tomoscintigraphie émission monophotonique @5 09`
C03	`04`	`X`	`ENG`	`@0 Single photon emission tomography @5 09`
C03	`04`	`X`	`SPA`	`@0 Tomografía emisión fotón único @5 09`
C03	`05`	`X`	`FRE`	`@0 Photon @5 10`
C03	`05`	`X`	`ENG`	`@0 Photon @5 10`
C03	`05`	`X`	`SPA`	`@0 Fotón @5 10`
C03	`06`	`X`	`FRE`	`@0 Parkine @5 11`
C03	`06`	`X`	`ENG`	`@0 Parkin @5 11`
C03	`06`	`X`	`SPA`	`@0 Parkin @5 11`
C07	`01`	`X`	`FRE`	`@0 Mouvement involontaire @5 37`
C07	`01`	`X`	`ENG`	`@0 Involuntary movement @5 37`
C07	`01`	`X`	`SPA`	`@0 Movimiento involuntario @5 37`
C07	`02`	`X`	`FRE`	`@0 Trouble neurologique @5 38`
C07	`02`	`X`	`ENG`	`@0 Neurological disorder @5 38`
C07	`02`	`X`	`SPA`	`@0 Trastorno neurológico @5 38`
N21				`@1 141`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 07-0210959 INIST
ET :	Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study
AU :	PELLECCHIA (Maria Teresa); VARRONE (Andrea); ANNESI (Grazia); AMBONI (Marianna); CICARELLI (Giulio); SANSONE (Valeria); ANNESI (Ferdinanda); ROCCA (Francesca Emanuela); VITALE (Carmine); PAPPATA (Sabina); QUATTRONE (Aldo); BARONE (Paolo)
AF :	Department of Neurological Sciences, University Federico II/Napoli/Italie (1 aut., 4 aut., 5 aut., 9 aut., 12 aut.); Biostructure and Bioimaging Institute, National Research Council/Napoli/Italie (2 aut., 6 aut., 10 aut.); Institute of Neurological Sciences, National Research Council/Mangone, Cosenza/Italie (3 aut., 7 aut., 8 aut., 11 aut.); Institute of Neurology, University of Magna Graecia/Catanzaro/Italie (11 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 559-563; Bibl. 16 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G; 002B17A01
FD :	Système nerveux pathologie; Parkinsonisme; Tremblement; Tomoscintigraphie émission monophotonique; Photon; Parkine
FG :	Mouvement involontaire; Trouble neurologique
ED :	Nervous system diseases; Parkinsonism; Tremor; Single photon emission tomography; Photon; Parkin
EG :	Involuntary movement; Neurological disorder
SD :	Sistema nervioso patología; Parkinson síndrome; Temblor; Tomografía emisión fotón único; Fotón; Parkin
LO :	INIST-20953.354000145702210180
ID :	07-0210959

Links to Exploration step

Pascal:07-0210959

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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><inist:fA14 i1="01"><s1>Department of Neurological Sciences, University Federico II</s1>
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<s3>ITA</s3>
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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="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</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>
<affiliation><inist:fA14 i1="03"><s1>Institute of Neurological Sciences, National Research Council</s1>
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<s3>ITA</s3>
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<author><name sortKey="Vitale, Carmine" sort="Vitale, Carmine" uniqKey="Vitale C" first="Carmine" last="Vitale">Carmine Vitale</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, University Federico II</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
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<author><name sortKey="Pappata, Sabina" sort="Pappata, Sabina" uniqKey="Pappata S" first="Sabina" last="Pappata">Sabina Pappata</name>
<affiliation><inist:fA14 i1="02"><s1>Biostructure and Bioimaging Institute, National Research Council</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
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<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<affiliation><inist:fA14 i1="03"><s1>Institute of Neurological Sciences, National Research Council</s1>
<s2>Mangone, Cosenza</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Institute of Neurology, University of Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Barone, Paolo" sort="Barone, Paolo" uniqKey="Barone P" first="Paolo" last="Barone">Paolo Barone</name>
<affiliation><inist:fA14 i1="01"><s1>Department of Neurological Sciences, University Federico II</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term>
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<term>Parkinsonism</term>
<term>Photon</term>
<term>Single photon emission tomography</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Parkinsonisme</term>
<term>Tremblement</term>
<term>Tomoscintigraphie émission monophotonique</term>
<term>Photon</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>
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<fA11 i1="01" i2="1"><s1>PELLECCHIA (Maria Teresa)</s1>
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<fA11 i1="02" i2="1"><s1>VARRONE (Andrea)</s1>
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<fA11 i1="05" i2="1"><s1>CICARELLI (Giulio)</s1>
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<fA11 i1="08" i2="1"><s1>ROCCA (Francesca Emanuela)</s1>
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<fA11 i1="09" i2="1"><s1>VITALE (Carmine)</s1>
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<fA11 i1="10" i2="1"><s1>PAPPATA (Sabina)</s1>
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<fA11 i1="11" i2="1"><s1>QUATTRONE (Aldo)</s1>
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<fA11 i1="12" i2="1"><s1>BARONE (Paolo)</s1>
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<fA14 i1="01"><s1>Department of Neurological Sciences, University Federico II</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
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<fA14 i1="02"><s1>Biostructure and Bioimaging Institute, National Research Council</s1>
<s2>Napoli</s2>
<s3>ITA</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
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<fA14 i1="03"><s1>Institute of Neurological Sciences, National Research Council</s1>
<s2>Mangone, Cosenza</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Institute of Neurology, University of Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>11 aut.</sZ>
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<fA20><s1>559-563</s1>
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<fA21><s1>2007</s1>
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<fA66 i1="01"><s0>USA</s0>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<s5>02</s5>
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<s2>NM</s2>
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<fC03 i1="04" i2="X" l="SPA"><s0>Tomografía emisión fotón único</s0>
<s5>09</s5>
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<fC03 i1="05" i2="X" l="FRE"><s0>Photon</s0>
<s5>10</s5>
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<fC03 i1="05" i2="X" l="ENG"><s0>Photon</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Fotón</s0>
<s5>10</s5>
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<fC03 i1="06" i2="X" l="FRE"><s0>Parkine</s0>
<s5>11</s5>
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<s5>38</s5>
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<server><NO>PASCAL 07-0210959 INIST</NO>
<ET>Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study</ET>
<AU>PELLECCHIA (Maria Teresa); VARRONE (Andrea); ANNESI (Grazia); AMBONI (Marianna); CICARELLI (Giulio); SANSONE (Valeria); ANNESI (Ferdinanda); ROCCA (Francesca Emanuela); VITALE (Carmine); PAPPATA (Sabina); QUATTRONE (Aldo); BARONE (Paolo)</AU>
<AF>Department of Neurological Sciences, University Federico II/Napoli/Italie (1 aut., 4 aut., 5 aut., 9 aut., 12 aut.); Biostructure and Bioimaging Institute, National Research Council/Napoli/Italie (2 aut., 6 aut., 10 aut.); Institute of Neurological Sciences, National Research Council/Mangone, Cosenza/Italie (3 aut., 7 aut., 8 aut., 11 aut.); Institute of Neurology, University of Magna Graecia/Catanzaro/Italie (11 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 4; Pp. 559-563; Bibl. 16 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G; 002B17A01</CC>
<FD>Système nerveux pathologie; Parkinsonisme; Tremblement; Tomoscintigraphie émission monophotonique; Photon; Parkine</FD>
<FG>Mouvement involontaire; Trouble neurologique</FG>
<ED>Nervous system diseases; Parkinsonism; Tremor; Single photon emission tomography; Photon; Parkin</ED>
<EG>Involuntary movement; Neurological disorder</EG>
<SD>Sistema nervioso patología; Parkinson síndrome; Temblor; Tomografía emisión fotón único; Fotón; Parkin</SD>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study

Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2 : An FP-CIT SPECT study

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