MovDisordV3, PascalFrancis, Curation, bibRecord, 000150

The first identified French family with dentatorubral-pallidoluysian atrophy

Identifieur interne : 000150 ( PascalFrancis/Curation ); précédent : 000149; suivant : 000151

The first identified French family with dentatorubral-pallidoluysian atrophy

Auteurs : Alain Destee [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonniere [France]

Source :

Movement disorders [ 0885-3185 ] ; 2000.

RBID : Pascal:00-0478887

Descripteurs français

Pascal (Inist)
- Atrophie dentatorubropallidoluysienne, Français, Caucasoïde, Pénétrance génique, Etude familiale, Déterminisme génétique, Biologie moléculaire, Adulte, Mâle, Femelle.
Wicri :
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Caucasoid, Dentatorubropallidoluysian atrophy, Family study, Female, French, Gene penetrance, Genetic determinism, Male, Molecular biology.

Abstract

We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.

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A08	`01`	`1`	`ENG`	`@1 The first identified French family with dentatorubral-pallidoluysian atrophy`
A11	`01`	`1`		`@1 DESTEE (Alain)`
A11	`02`	`1`		`@1 DELALANDE (Isabelle)`
A11	`03`	`1`		`@1 VUILLAUME (Isabelle)`
A11	`04`	`1`		`@1 SCHRAEN-MASCHKE (Susanna)`
A11	`05`	`1`		`@1 DEFEBVRE (Luc)`
A11	`06`	`1`		`@1 SABLONNIERE (Bernard)`
A14	`01`			`@1 Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro @2 Lille @3 FRA @Z 1 aut. @Z 2 aut. @Z 5 aut.`
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A44				`@0 0000 @1 © 2000 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.
C02	`01`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Atrophie dentatorubropallidoluysienne @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Dentatorubropallidoluysian atrophy @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Atrofia dentatorubropallidoluysiana @2 NM @5 01`
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C03	`02`	`X`	`ENG`	`@0 French @5 04`
C03	`02`	`X`	`SPA`	`@0 Francés @5 04`
C03	`03`	`X`	`FRE`	`@0 Caucasoïde @5 05`
C03	`03`	`X`	`ENG`	`@0 Caucasoid @5 05`
C03	`03`	`X`	`SPA`	`@0 Caucásico @5 05`
C03	`04`	`X`	`FRE`	`@0 Pénétrance génique @5 07`
C03	`04`	`X`	`ENG`	`@0 Gene penetrance @5 07`
C03	`04`	`X`	`SPA`	`@0 Penetrancia génica @5 07`
C03	`05`	`X`	`FRE`	`@0 Etude familiale @5 17`
C03	`05`	`X`	`ENG`	`@0 Family study @5 17`
C03	`05`	`X`	`SPA`	`@0 Estudio familiar @5 17`
C03	`06`	`X`	`FRE`	`@0 Déterminisme génétique @5 18`
C03	`06`	`X`	`ENG`	`@0 Genetic determinism @5 18`
C03	`06`	`X`	`SPA`	`@0 Determinismo genético @5 18`
C03	`07`	`X`	`FRE`	`@0 Biologie moléculaire @5 19`
C03	`07`	`X`	`ENG`	`@0 Molecular biology @5 19`
C03	`07`	`X`	`SPA`	`@0 Biología molecular @5 19`
C03	`08`	`X`	`FRE`	`@0 Adulte @5 20`
C03	`08`	`X`	`ENG`	`@0 Adult @5 20`
C03	`08`	`X`	`SPA`	`@0 Adulto @5 20`
C03	`09`	`X`	`FRE`	`@0 Mâle @5 21`
C03	`09`	`X`	`ENG`	`@0 Male @5 21`
C03	`09`	`X`	`SPA`	`@0 Macho @5 21`
C03	`10`	`X`	`FRE`	`@0 Femelle @5 22`
C03	`10`	`X`	`ENG`	`@0 Female @5 22`
C03	`10`	`X`	`SPA`	`@0 Hembra @5 22`
C07	`01`	`X`	`FRE`	`@0 Homme`
C07	`01`	`X`	`ENG`	`@0 Human`
C07	`01`	`X`	`SPA`	`@0 Hombre`
C07	`02`	`X`	`FRE`	`@0 Système nerveux pathologie @5 37`
C07	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 37`
C07	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Système nerveux central pathologie @5 38`
C07	`03`	`X`	`ENG`	`@0 Central nervous system disease @5 38`
C07	`03`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 38`
C07	`04`	`X`	`FRE`	`@0 Encéphale pathologie @5 39`
C07	`04`	`X`	`ENG`	`@0 Cerebral disorder @5 39`
C07	`04`	`X`	`SPA`	`@0 Encéfalo patología @5 39`
C07	`05`	`X`	`FRE`	`@0 Maladie dégénérative @5 40`
C07	`05`	`X`	`ENG`	`@0 Degenerative disease @5 40`
C07	`05`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 40`
N21				`@1 318`

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Pascal:00-0478887

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The first identified French family with dentatorubral-pallidoluysian atrophy</title>
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<author><name sortKey="Schraen Maschke, Susanna" sort="Schraen Maschke, Susanna" uniqKey="Schraen Maschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
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<front><div type="abstract" xml:lang="en">We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</div>
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<fC01 i1="01" l="ENG"><s0>We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</s0>
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</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>18</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>18</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Biologie moléculaire</s0>
<s5>19</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Molecular biology</s0>
<s5>19</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Biología molecular</s0>
<s5>19</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Mâle</s0>
<s5>21</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Male</s0>
<s5>21</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Macho</s0>
<s5>21</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Femelle</s0>
<s5>22</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Female</s0>
<s5>22</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Hembra</s0>
<s5>22</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fN21><s1>318</s1>
</fN21>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

The first identified French family with dentatorubral-pallidoluysian atrophy

The first identified French family with dentatorubral-pallidoluysian atrophy

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