ParkinsonFranceV1, PascalFrancis, Corpus, bibRecord, 001159

PARK6-linked parkinsonism occurs in several European families

Identifieur interne : 001159 ( PascalFrancis/Corpus ); précédent : 001158; suivant : 001160

PARK6-linked parkinsonism occurs in several European families

Auteurs : Enza Maria Valente ; Francesco Brancati ; Alessandro Ferraris ; Elizabeth A. Graham ; Mary B. Davis ; Monique M. B. Breteler ; Thomas Gasser ; Vincenzo Bonifati ; Anna Rita Bentivoglio ; Giuseppe De Michele ; Alexandra Dürr ; Pietro Cortelli ; Dietmar Wassilowsky ; Biswadjiet S. Harhangi ; Nina Rawal ; Viviana Caputo ; Alessandro Filla ; Giuseppe Meco ; Ben A. Oostra ; Alexis Brice ; Alberto Albanese ; Bruno Dallapiccola ; Nicholas W. Wood

Source :

Annals of neurology [ 0364-5134 ] ; 2002.

RBID : Pascal:02-0125755

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Dystonie, Parkinson maladie, Phénotype, Sporadique, Haplotype, Homozygotie, Age apparition, Idiopathique, Homme, Déterminisme génétique.

English descriptors

KwdEn :
- Age of onset, Dystonia, Genetic determinism, Haplotype, Homozygosity, Human, Idiopathic, Parkinson disease, Parkinsonism, Phenotype, Sporadic.

Abstract

The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 PARK6-linked parkinsonism occurs in several European families`
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A11	`02`	`1`		`@1 BRANCATI (Francesco)`
A11	`03`	`1`		`@1 FERRARIS (Alessandro)`
A11	`04`	`1`		`@1 GRAHAM (Elizabeth A.)`
A11	`05`	`1`		`@1 DAVIS (Mary B.)`
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A11	`16`	`1`		`@1 CAPUTO (Viviana)`
A11	`17`	`1`		`@1 FILLA (Alessandro)`
A11	`18`	`1`		`@1 MECO (Giuseppe)`
A11	`19`	`1`		`@1 OOSTRA (Ben A.)`
A11	`20`	`1`		`@1 BRICE (Alexis)`
A11	`21`	`1`		`@1 ALBANESE (Alberto)`
A11	`22`	`1`		`@1 DALLAPICCOLA (Bruno)`
A11	`23`	`1`		`@1 WOOD (Nicholas W.)`
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A14	`02`			`@1 Department of Clinical Neurology, Institute of Neurology @2 London @3 GBR @Z 1 aut. @Z 4 aut. @Z 5 aut. @Z 23 aut.`
A14	`03`			`@1 Erasmus University @2 Rotterdam @3 NLD @Z 6 aut. @Z 14 aut. @Z 19 aut.`
A14	`04`			`@1 Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität @2 Münich @3 DEU @Z 7 aut. @Z 13 aut.`
A14	`05`			`@1 Department of Neurological Sciences, University "La Sapienza, " @2 Rome @3 ITA @Z 8 aut. @Z 18 aut.`
A14	`06`			`@1 Institute of Neurology, Catholic University @2 Rome @3 ITA @Z 9 aut.`
A14	`07`			`@1 Department of Neurological Sciences, University "Federico II" @2 Naples @3 ITA @Z 10 aut. @Z 17 aut.`
A14	`08`			`@1 INSERM U289, Hôpital de la Salpêtrière @2 Paris @3 FRA @Z 11 aut. @Z 15 aut. @Z 20 aut.`
A14	`09`			`@1 Department of Neuropsycosensorial Pathology, University of Modena @3 ITA @Z 12 aut.`
A14	`10`			`@1 National Neurological Institute "Carlo Besta, " @2 Milan @3 ITA @Z 21 aut.`
A17	`01`	`1`		`@1 European Consortium on Genetic Susceptibility in Parkinson's Disease @3 EUR`
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A21				`@1 2002`
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A44				`@0 0000 @1 © 2002 INIST-CNRS. All rights reserved.`
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A64	`01`	`1`		`@0 Annals of neurology`
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C01	`01`		`ENG`	@0 The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.
C02	`01`	`X`		`@0 002B17G`
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C03	`01`	`X`	`ENG`	`@0 Parkinsonism @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson síndrome @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Dystonie @5 04`
C03	`02`	`X`	`ENG`	`@0 Dystonia @5 04`
C03	`02`	`X`	`SPA`	`@0 Distonía @5 04`
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C03	`03`	`X`	`ENG`	`@0 Parkinson disease @5 07`
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C03	`04`	`X`	`ENG`	`@0 Phenotype @5 16`
C03	`04`	`X`	`SPA`	`@0 Fenotipo @5 16`
C03	`05`	`X`	`FRE`	`@0 Sporadique @5 17`
C03	`05`	`X`	`ENG`	`@0 Sporadic @5 17`
C03	`05`	`X`	`SPA`	`@0 Esporádico @5 17`
C03	`06`	`X`	`FRE`	`@0 Haplotype @5 21`
C03	`06`	`X`	`ENG`	`@0 Haplotype @5 21`
C03	`06`	`X`	`SPA`	`@0 Haplotipo @5 21`
C03	`07`	`X`	`FRE`	`@0 Homozygotie @5 22`
C03	`07`	`X`	`ENG`	`@0 Homozygosity @5 22`
C03	`07`	`X`	`SPA`	`@0 Homocigosis @5 22`
C03	`08`	`X`	`FRE`	`@0 Age apparition @5 23`
C03	`08`	`X`	`ENG`	`@0 Age of onset @5 23`
C03	`08`	`X`	`SPA`	`@0 Edad aparición @5 23`
C03	`09`	`X`	`FRE`	`@0 Idiopathique @5 35`
C03	`09`	`X`	`ENG`	`@0 Idiopathic @5 35`
C03	`09`	`X`	`SPA`	`@0 Idiopático @5 35`
C03	`10`	`X`	`FRE`	`@0 Homme @5 36`
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C03	`11`	`X`	`FRE`	`@0 Déterminisme génétique @5 77`
C03	`11`	`X`	`ENG`	`@0 Genetic determinism @5 77`
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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 Muscle strié pathologie @5 38`
C07	`02`	`X`	`ENG`	`@0 Striated muscle disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Músculo estriado patología @5 38`
C07	`03`	`X`	`FRE`	`@0 Extrapyramidal syndrome @5 39`
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C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 39`
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C07	`07`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 43`
C07	`08`	`X`	`FRE`	`@0 Encéphale pathologie @5 44`
C07	`08`	`X`	`ENG`	`@0 Cerebral disorder @5 44`
C07	`08`	`X`	`SPA`	`@0 Encéfalo patología @5 44`
N21				`@1 070`
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Format Inist (serveur)

NO :	PASCAL 02-0125755 INIST
ET :	PARK6-linked parkinsonism occurs in several European families
AU :	VALENTE (Enza Maria); BRANCATI (Francesco); FERRARIS (Alessandro); GRAHAM (Elizabeth A.); DAVIS (Mary B.); BRETELER (Monique M. B.); GASSER (Thomas); BONIFATI (Vincenzo); BENTIVOGLIO (Anna Rita); DE MICHELE (Giuseppe); DÜRR (Alexandra); CORTELLI (Pietro); WASSILOWSKY (Dietmar); HARHANGI (Biswadjiet S.); RAWAL (Nina); CAPUTO (Viviana); FILLA (Alessandro); MECO (Giuseppe); OOSTRA (Ben A.); BRICE (Alexis); ALBANESE (Alberto); DALLAPICCOLA (Bruno); WOOD (Nicholas W.)
AF :	Institute for Medical Genetics C.S.S. Mendel/Rome/Italie (1 aut., 2 aut., 3 aut., 16 aut., 22 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (1 aut., 4 aut., 5 aut., 23 aut.); Erasmus University/Rotterdam/Pays-Bas (6 aut., 14 aut., 19 aut.); Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität/Münich/Allemagne (7 aut., 13 aut.); Department of Neurological Sciences, University "La Sapienza, "/Rome/Italie (8 aut., 18 aut.); Institute of Neurology, Catholic University/Rome/Italie (9 aut.); Department of Neurological Sciences, University "Federico II"/Naples/Italie (10 aut., 17 aut.); INSERM U289, Hôpital de la Salpêtrière/Paris/France (11 aut., 15 aut., 20 aut.); Department of Neuropsycosensorial Pathology, University of Modena/Italie (12 aut.); National Neurological Institute "Carlo Besta, "/Milan/Italie (21 aut.)
DT :	Publication en série; Niveau analytique
SO :	Annals of neurology; ISSN 0364-5134; Coden ANNED3; Etats-Unis; Da. 2002; Vol. 51; No. 1; Pp. 14-18; Bibl. 17 ref.
LA :	Anglais
EA :	The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.
CC :	002B17G
FD :	Parkinsonisme; Dystonie; Parkinson maladie; Phénotype; Sporadique; Haplotype; Homozygotie; Age apparition; Idiopathique; Homme; Déterminisme génétique
FG :	Mouvement involontaire; Muscle strié pathologie; Extrapyramidal syndrome; Système nerveux pathologie; Trouble neurologique; Système nerveux central pathologie; Maladie dégénérative; Encéphale pathologie
ED :	Parkinsonism; Dystonia; Parkinson disease; Phenotype; Sporadic; Haplotype; Homozygosity; Age of onset; Idiopathic; Human; Genetic determinism
EG :	Involuntary movement; Striated muscle disease; Extrapyramidal syndrome; Nervous system diseases; Neurological disorder; Central nervous system disease; Degenerative disease; Cerebral disorder
SD :	Parkinson síndrome; Distonía; Parkinson enfermedad; Fenotipo; Esporádico; Haplotipo; Homocigosis; Edad aparición; Idiopático; Hombre; Determinismo genético
LO :	INIST-16555.354000094702210040
ID :	02-0125755

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Pascal:02-0125755

Le document en format XML

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<author><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name>
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<author><name sortKey="Wassilowsky, Dietmar" sort="Wassilowsky, Dietmar" uniqKey="Wassilowsky D" first="Dietmar" last="Wassilowsky">Dietmar Wassilowsky</name>
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<author><name sortKey="Harhangi, Biswadjiet S" sort="Harhangi, Biswadjiet S" uniqKey="Harhangi B" first="Biswadjiet S." last="Harhangi">Biswadjiet S. Harhangi</name>
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<author><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name>
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<author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurological Sciences, University "Federico II"</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>10 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurological Sciences, University "La Sapienza, "</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
<affiliation><inist:fA14 i1="03"><s1>Erasmus University</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>19 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist:fA14 i1="08"><s1>INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
<affiliation><inist:fA14 i1="10"><s1>National Neurological Institute "Carlo Besta, "</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">02-0125755</idno>
<date when="2002">2002</date>
<idno type="stanalyst">PASCAL 02-0125755 INIST</idno>
<idno type="RBID">Pascal:02-0125755</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001159</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">PARK6-linked parkinsonism occurs in several European families</title>
<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Graham, Elizabeth A" sort="Graham, Elizabeth A" uniqKey="Graham E" first="Elizabeth A." last="Graham">Elizabeth A. Graham</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B." last="Davis">Mary B. Davis</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Breteler, Monique M B" sort="Breteler, Monique M B" uniqKey="Breteler M" first="Monique M. B." last="Breteler">Monique M. B. Breteler</name>
<affiliation><inist:fA14 i1="03"><s1>Erasmus University</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name>
<affiliation><inist:fA14 i1="04"><s1>Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität</s1>
<s2>Münich</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurological Sciences, University "La Sapienza, "</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name>
<affiliation><inist:fA14 i1="06"><s1>Institute of Neurology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="De Michele, Giuseppe" sort="De Michele, Giuseppe" uniqKey="De Michele G" first="Giuseppe" last="De Michele">Giuseppe De Michele</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurological Sciences, University "Federico II"</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>10 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name>
<affiliation><inist:fA14 i1="08"><s1>INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Cortelli, Pietro" sort="Cortelli, Pietro" uniqKey="Cortelli P" first="Pietro" last="Cortelli">Pietro Cortelli</name>
<affiliation><inist:fA14 i1="09"><s1>Department of Neuropsycosensorial Pathology, University of Modena</s1>
<s3>ITA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wassilowsky, Dietmar" sort="Wassilowsky, Dietmar" uniqKey="Wassilowsky D" first="Dietmar" last="Wassilowsky">Dietmar Wassilowsky</name>
<affiliation><inist:fA14 i1="04"><s1>Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität</s1>
<s2>Münich</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Harhangi, Biswadjiet S" sort="Harhangi, Biswadjiet S" uniqKey="Harhangi B" first="Biswadjiet S." last="Harhangi">Biswadjiet S. Harhangi</name>
<affiliation><inist:fA14 i1="03"><s1>Erasmus University</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rawal, Nina" sort="Rawal, Nina" uniqKey="Rawal N" first="Nina" last="Rawal">Nina Rawal</name>
<affiliation><inist:fA14 i1="08"><s1>INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Caputo, Viviana" sort="Caputo, Viviana" uniqKey="Caputo V" first="Viviana" last="Caputo">Viviana Caputo</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name>
<affiliation><inist:fA14 i1="07"><s1>Department of Neurological Sciences, University "Federico II"</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>10 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Meco, Giuseppe" sort="Meco, Giuseppe" uniqKey="Meco G" first="Giuseppe" last="Meco">Giuseppe Meco</name>
<affiliation><inist:fA14 i1="05"><s1>Department of Neurological Sciences, University "La Sapienza, "</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name>
<affiliation><inist:fA14 i1="03"><s1>Erasmus University</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>19 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
<affiliation><inist:fA14 i1="08"><s1>INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
<affiliation><inist:fA14 i1="10"><s1>National Neurological Institute "Carlo Besta, "</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
<affiliation><inist:fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
<affiliation><inist:fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Annals of neurology</title>
<title level="j" type="abbreviated">Ann. neurol.</title>
<idno type="ISSN">0364-5134</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Annals of neurology</title>
<title level="j" type="abbreviated">Ann. neurol.</title>
<idno type="ISSN">0364-5134</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of onset</term>
<term>Dystonia</term>
<term>Genetic determinism</term>
<term>Haplotype</term>
<term>Homozygosity</term>
<term>Human</term>
<term>Idiopathic</term>
<term>Parkinson disease</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
<term>Sporadic</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term>
<term>Dystonie</term>
<term>Parkinson maladie</term>
<term>Phénotype</term>
<term>Sporadique</term>
<term>Haplotype</term>
<term>Homozygotie</term>
<term>Age apparition</term>
<term>Idiopathique</term>
<term>Homme</term>
<term>Déterminisme génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.</div>
</front>
</TEI>
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<fA05><s2>51</s2>
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<fA06><s2>1</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>PARK6-linked parkinsonism occurs in several European families</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>VALENTE (Enza Maria)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>BRANCATI (Francesco)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>FERRARIS (Alessandro)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>GRAHAM (Elizabeth A.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>DAVIS (Mary B.)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>BRETELER (Monique M. B.)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>GASSER (Thomas)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>BONIFATI (Vincenzo)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>BENTIVOGLIO (Anna Rita)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>DE MICHELE (Giuseppe)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>DÜRR (Alexandra)</s1>
</fA11>
<fA11 i1="12" i2="1"><s1>CORTELLI (Pietro)</s1>
</fA11>
<fA11 i1="13" i2="1"><s1>WASSILOWSKY (Dietmar)</s1>
</fA11>
<fA11 i1="14" i2="1"><s1>HARHANGI (Biswadjiet S.)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>RAWAL (Nina)</s1>
</fA11>
<fA11 i1="16" i2="1"><s1>CAPUTO (Viviana)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>FILLA (Alessandro)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>MECO (Giuseppe)</s1>
</fA11>
<fA11 i1="19" i2="1"><s1>OOSTRA (Ben A.)</s1>
</fA11>
<fA11 i1="20" i2="1"><s1>BRICE (Alexis)</s1>
</fA11>
<fA11 i1="21" i2="1"><s1>ALBANESE (Alberto)</s1>
</fA11>
<fA11 i1="22" i2="1"><s1>DALLAPICCOLA (Bruno)</s1>
</fA11>
<fA11 i1="23" i2="1"><s1>WOOD (Nicholas W.)</s1>
</fA11>
<fA14 i1="01"><s1>Institute for Medical Genetics C.S.S. Mendel</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>22 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Department of Clinical Neurology, Institute of Neurology</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>23 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Erasmus University</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität</s1>
<s2>Münich</s2>
<s3>DEU</s3>
<sZ>7 aut.</sZ>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurological Sciences, University "La Sapienza, "</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>8 aut.</sZ>
<sZ>18 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Institute of Neurology, Catholic University</s1>
<s2>Rome</s2>
<s3>ITA</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurological Sciences, University "Federico II"</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>10 aut.</sZ>
<sZ>17 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>INSERM U289, Hôpital de la Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>20 aut.</sZ>
</fA14>
<fA14 i1="09"><s1>Department of Neuropsycosensorial Pathology, University of Modena</s1>
<s3>ITA</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="10"><s1>National Neurological Institute "Carlo Besta, "</s1>
<s2>Milan</s2>
<s3>ITA</s3>
<sZ>21 aut.</sZ>
</fA14>
<fA17 i1="01" i2="1"><s1>European Consortium on Genetic Susceptibility in Parkinson's Disease</s1>
<s3>EUR</s3>
</fA17>
<fA20><s1>14-18</s1>
</fA20>
<fA21><s1>2002</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>16555</s2>
<s5>354000094702210040</s5>
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<fA44><s0>0000</s0>
<s1>© 2002 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>17 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>02-0125755</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Annals of neurology</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>04</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Distonía</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Parkinson maladie</s0>
<s5>07</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Parkinson disease</s0>
<s5>07</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Parkinson enfermedad</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>16</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>16</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>16</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Sporadique</s0>
<s5>17</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Sporadic</s0>
<s5>17</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Esporádico</s0>
<s5>17</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Haplotype</s0>
<s5>21</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Haplotype</s0>
<s5>21</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Haplotipo</s0>
<s5>21</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Homozygotie</s0>
<s5>22</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Homozygosity</s0>
<s5>22</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Homocigosis</s0>
<s5>22</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Age apparition</s0>
<s5>23</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Age of onset</s0>
<s5>23</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Edad aparición</s0>
<s5>23</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Idiopathique</s0>
<s5>35</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Idiopathic</s0>
<s5>35</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Idiopático</s0>
<s5>35</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Homme</s0>
<s5>36</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Human</s0>
<s5>36</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Hombre</s0>
<s5>36</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>77</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>77</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>77</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Muscle strié pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>43</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>44</s5>
</fC07>
<fN21><s1>070</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 02-0125755 INIST</NO>
<ET>PARK6-linked parkinsonism occurs in several European families</ET>
<AU>VALENTE (Enza Maria); BRANCATI (Francesco); FERRARIS (Alessandro); GRAHAM (Elizabeth A.); DAVIS (Mary B.); BRETELER (Monique M. B.); GASSER (Thomas); BONIFATI (Vincenzo); BENTIVOGLIO (Anna Rita); DE MICHELE (Giuseppe); DÜRR (Alexandra); CORTELLI (Pietro); WASSILOWSKY (Dietmar); HARHANGI (Biswadjiet S.); RAWAL (Nina); CAPUTO (Viviana); FILLA (Alessandro); MECO (Giuseppe); OOSTRA (Ben A.); BRICE (Alexis); ALBANESE (Alberto); DALLAPICCOLA (Bruno); WOOD (Nicholas W.)</AU>
<AF>Institute for Medical Genetics C.S.S. Mendel/Rome/Italie (1 aut., 2 aut., 3 aut., 16 aut., 22 aut.); Department of Clinical Neurology, Institute of Neurology/London/Royaume-Uni (1 aut., 4 aut., 5 aut., 23 aut.); Erasmus University/Rotterdam/Pays-Bas (6 aut., 14 aut., 19 aut.); Neurologische Klinik, Klinikum Glosshadern, Ludwig Maximilians Universität/Münich/Allemagne (7 aut., 13 aut.); Department of Neurological Sciences, University "La Sapienza, "/Rome/Italie (8 aut., 18 aut.); Institute of Neurology, Catholic University/Rome/Italie (9 aut.); Department of Neurological Sciences, University "Federico II"/Naples/Italie (10 aut., 17 aut.); INSERM U289, Hôpital de la Salpêtrière/Paris/France (11 aut., 15 aut., 20 aut.); Department of Neuropsycosensorial Pathology, University of Modena/Italie (12 aut.); National Neurological Institute "Carlo Besta, "/Milan/Italie (21 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Annals of neurology; ISSN 0364-5134; Coden ANNED3; Etats-Unis; Da. 2002; Vol. 51; No. 1; Pp. 14-18; Bibl. 17 ref.</SO>
<LA>Anglais</LA>
<EA>The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.</EA>
<CC>002B17G</CC>
<FD>Parkinsonisme; Dystonie; Parkinson maladie; Phénotype; Sporadique; Haplotype; Homozygotie; Age apparition; Idiopathique; Homme; Déterminisme génétique</FD>
<FG>Mouvement involontaire; Muscle strié pathologie; Extrapyramidal syndrome; Système nerveux pathologie; Trouble neurologique; Système nerveux central pathologie; Maladie dégénérative; Encéphale pathologie</FG>
<ED>Parkinsonism; Dystonia; Parkinson disease; Phenotype; Sporadic; Haplotype; Homozygosity; Age of onset; Idiopathic; Human; Genetic determinism</ED>
<EG>Involuntary movement; Striated muscle disease; Extrapyramidal syndrome; Nervous system diseases; Neurological disorder; Central nervous system disease; Degenerative disease; Cerebral disorder</EG>
<SD>Parkinson síndrome; Distonía; Parkinson enfermedad; Fenotipo; Esporádico; Haplotipo; Homocigosis; Edad aparición; Idiopático; Hombre; Determinismo genético</SD>
<LO>INIST-16555.354000094702210040</LO>
<ID>02-0125755</ID>
</server>
</inist>
</record>

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	La maladie de Parkinson en France (serveur d'exploration)
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La maladie de Parkinson en France (serveur d'exploration)

PARK6-linked parkinsonism occurs in several European families

PARK6-linked parkinsonism occurs in several European families

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