MovDisordV3, PascalFrancis, Corpus, bibRecord, 001A07

Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?

Identifieur interne : 001A07 ( PascalFrancis/Corpus ); précédent : 001A06; suivant : 001A08

Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?

Auteurs : SHAOCHUN MA ; Thomas L. Davis ; Marcia A. Blair ; John Y. Fang ; Yuki Bradford ; Jonathan L. Haines ; Peter Hedera

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0518089

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Tremblement, Liaison génétique.

English descriptors

KwdEn :
- Genetic linkage, Nervous system diseases, Tremor.

Abstract

A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A08	`01`	`1`	`ENG`	`@1 Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?`
A11	`01`	`1`		`@1 SHAOCHUN MA`
A11	`02`	`1`		`@1 DAVIS (Thomas L.)`
A11	`03`	`1`		`@1 BLAIR (Marcia A.)`
A11	`04`	`1`		`@1 FANG (John Y.)`
A11	`05`	`1`		`@1 BRADFORD (Yuki)`
A11	`06`	`1`		`@1 HAINES (Jonathan L.)`
A11	`07`	`1`		`@1 HEDERA (Peter)`
A14	`01`			`@1 Department of Neurology, Vanderbilt University @2 Nashville, Tennessee @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 7 aut.`
A14	`02`			`@1 Center for Human Genetics Research, Vanderbilt University @2 Nashville, Tennessee @3 USA @Z 5 aut. @Z 6 aut. @Z 7 aut.`
A14	`03`			`@1 Department of Molecular Physiology and Biophysics, Vanderbilt University @2 Nashville, Tennessee @3 USA @Z 6 aut.`
A20				`@1 1368-1374`
A21				`@1 2006`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000158780860110`
A44				`@0 0000 @1 © 2006 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.
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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 Tremblement @5 02`
C03	`02`	`X`	`ENG`	`@0 Tremor @5 02`
C03	`02`	`X`	`SPA`	`@0 Temblor @5 02`
C03	`03`	`X`	`FRE`	`@0 Liaison génétique @5 09`
C03	`03`	`X`	`ENG`	`@0 Genetic linkage @5 09`
C03	`03`	`X`	`SPA`	`@0 Ligamiento genético @5 09`
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				`@1 338`
N44	`01`			`@1 OTO`
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Format Inist (serveur)

NO :	PASCAL 06-0518089 INIST
ET :	Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?
AU :	SHAOCHUN MA; DAVIS (Thomas L.); BLAIR (Marcia A.); FANG (John Y.); BRADFORD (Yuki); HAINES (Jonathan L.); HEDERA (Peter)
AF :	Department of Neurology, Vanderbilt University/Nashville, Tennessee/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 7 aut.); Center for Human Genetics Research, Vanderbilt University/Nashville, Tennessee/Etats-Unis (5 aut., 6 aut., 7 aut.); Department of Molecular Physiology and Biophysics, Vanderbilt University/Nashville, Tennessee/Etats-Unis (6 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1368-1374; Bibl. 37 ref.
LA :	Anglais
EA :	A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.
CC :	002B17; 002B17G; 002B17A01
FD :	Système nerveux pathologie; Tremblement; Liaison génétique
FG :	Mouvement involontaire; Trouble neurologique
ED :	Nervous system diseases; Tremor; Genetic linkage
EG :	Involuntary movement; Neurological disorder
SD :	Sistema nervioso patología; Temblor; Ligamiento genético
LO :	INIST-20953.354000158780860110
ID :	06-0518089

Links to Exploration step

Pascal:06-0518089

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?</title>
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<front><div type="abstract" xml:lang="en">A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.</div>
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<fC01 i1="01" l="ENG"><s0>A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.</s0>
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<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Genetic linkage</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Ligamiento genético</s0>
<s5>09</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>Trouble neurologique</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>38</s5>
</fC07>
<fN21><s1>338</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
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<server><NO>PASCAL 06-0518089 INIST</NO>
<ET>Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?</ET>
<AU>SHAOCHUN MA; DAVIS (Thomas L.); BLAIR (Marcia A.); FANG (John Y.); BRADFORD (Yuki); HAINES (Jonathan L.); HEDERA (Peter)</AU>
<AF>Department of Neurology, Vanderbilt University/Nashville, Tennessee/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 7 aut.); Center for Human Genetics Research, Vanderbilt University/Nashville, Tennessee/Etats-Unis (5 aut., 6 aut., 7 aut.); Department of Molecular Physiology and Biophysics, Vanderbilt University/Nashville, Tennessee/Etats-Unis (6 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2006; Vol. 21; No. 9; Pp. 1368-1374; Bibl. 37 ref.</SO>
<LA>Anglais</LA>
<EA>A positive family history is present in many patients with essential tremor (ET), but twin studies and segregation analysis have suggested that ET is not entirely a genetic disorder. Two genetic loci have been identified in autosomal dominant (AD) ET and polymorphisms in the DRD3 and HS1-BP3 genes have been proposed as the possible susceptibility factors for ET. There is also evidence for further genetic heterogeneity. We evaluated 4 unrelated large kindreds with ET with an apparent AD mode of transmission. Each kindred spanned at least 3 generations and contained at least 13 living affected subjects who met criteria for definitive ET. None of the pedigrees had evidence for inheritance of ET from both parents. Known genetic ET loci were excluded in these families. We detected a preferential transmission of ET in every kindred and the proportion of affected offspring varied from 75% to 90% (P < 0.05) in the generations with complete ascertainment. Our data indicate that non-Mendelian preferential transmission of an affected allele is a feature in many ET kindreds with multiple affected members and an apparent AD mode of inheritance. ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors.</EA>
<CC>002B17; 002B17G; 002B17A01</CC>
<FD>Système nerveux pathologie; Tremblement; Liaison génétique</FD>
<FG>Mouvement involontaire; Trouble neurologique</FG>
<ED>Nervous system diseases; Tremor; Genetic linkage</ED>
<EG>Involuntary movement; Neurological disorder</EG>
<SD>Sistema nervioso patología; Temblor; Ligamiento genético</SD>
<LO>INIST-20953.354000158780860110</LO>
<ID>06-0518089</ID>
</server>
</inist>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?

Familial essential tremor with apparent autosomal dominant inheritance : Should we also consider other inheritance modes?

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