MovDisordV3, PascalFrancis, Corpus, bibRecord, 000960

Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15

Identifieur interne : 000960 ( PascalFrancis/Corpus ); précédent : 000959; suivant : 000961

Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15

Auteurs : Anne Weissbach ; Ana Djarmati ; Christine Klein ; Nataša Dragasevic ; Christine Zühlke ; Aleksandar Rakovic ; Miodrag Guzvic ; Elisabeth Butz ; Holger Tönnies ; Reiner Siebert ; Igor Petrovic ; Marina Svetel ; Vladimir S. Kostic ; Katja Lohmann

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0413278

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Hétérogénéité, Ataxie spinocérébelleuse, Chromosome 15.

English descriptors

KwdEn :
- Chromosome 15, Heterogeneity, Nervous system diseases, Spinocerebellar ataxia.

Abstract

Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCAII (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`02`			`@1 Institute of Neurology, Clinical Center of Serbia @2 Belgrade @3 SRB @Z 4 aut. @Z 11 aut. @Z 12 aut. @Z 13 aut.`
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A14	`04`			`@1 Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca" @2 Belgrade @3 SRB @Z 7 aut.`
A14	`05`			`@1 Institute of Human Genetics, Christian-Albrechts University @2 Kiel @3 DEU @Z 9 aut. @Z 10 aut.`
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C03	`03`	`X`	`FRE`	`@0 Ataxie spinocérébelleuse @2 NM @5 10`
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C03	`04`	`X`	`ENG`	`@0 Chromosome 15 @5 11`
C03	`04`	`X`	`SPA`	`@0 Cromosoma 15 @5 11`
C07	`01`	`X`	`FRE`	`@0 Maladie dégénérative @5 37`
C07	`01`	`X`	`ENG`	`@0 Degenerative disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 37`
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C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 39`
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Format Inist (serveur)

NO :	PASCAL 10-0413278 INIST
ET :	Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15
AU :	WEISSBACH (Anne); DJARMATI (Ana); KLEIN (Christine); DRAGASEVIC (Nataša); ZÜHLKE (Christine); RAKOVIC (Aleksandar); GUZVIC (Miodrag); BUTZ (Elisabeth); TÖNNIES (Holger); SIEBERT (Reiner); PETROVIC (Igor); SVETEL (Marina); KOSTIC (Vladimir S.); LOHMANN (Katja)
AF :	Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 6 aut., 7 aut., 8 aut., 14 aut.); Institute of Neurology, Clinical Center of Serbia/Belgrade/Serbie (4 aut., 11 aut., 12 aut., 13 aut.); Institute of Human Genetics, University of Lübeck/Lübeck/Allemagne (5 aut.); Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"/Belgrade/Serbie (7 aut.); Institute of Human Genetics, Christian-Albrechts University/Kiel/Allemagne (9 aut., 10 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 11; Pp. 1577-1582; Bibl. 15 ref.
LA :	Anglais
EA :	Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCAII (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D.
CC :	002B17; 002B17G
FD :	Pathologie du système nerveux; Hétérogénéité; Ataxie spinocérébelleuse; Chromosome 15
FG :	Maladie dégénérative; Maladie héréditaire; Pathologie du système nerveux central
ED :	Nervous system diseases; Heterogeneity; Spinocerebellar ataxia; Chromosome 15
EG :	Degenerative disease; Genetic disease; Central nervous system disease
SD :	Sistema nervioso patología; Heterogeneidad; Ataxia spinocerebelosa; Cromosoma 15
LO :	INIST-20953.354000192608100070
ID :	10-0413278

Links to Exploration step

Pascal:10-0413278

Le document en format XML

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<author><name sortKey="Butz, Elisabeth" sort="Butz, Elisabeth" uniqKey="Butz E" first="Elisabeth" last="Butz">Elisabeth Butz</name>
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<author><name sortKey="Tonnies, Holger" sort="Tonnies, Holger" uniqKey="Tonnies H" first="Holger" last="Tönnies">Holger Tönnies</name>
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<author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name>
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<author><name sortKey="Petrovic, Igor" sort="Petrovic, Igor" uniqKey="Petrovic I" first="Igor" last="Petrovic">Igor Petrovic</name>
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<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
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<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15</title>
<author><name sortKey="Weissbach, Anne" sort="Weissbach, Anne" uniqKey="Weissbach A" first="Anne" last="Weissbach">Anne Weissbach</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
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<author><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
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<author><name sortKey="Dragasevic, Natasa" sort="Dragasevic, Natasa" uniqKey="Dragasevic N" first="Nataša" last="Dragasevic">Nataša Dragasevic</name>
<affiliation><inist:fA14 i1="02"><s1>Institute of Neurology, Clinical Center of Serbia</s1>
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<author><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name>
<affiliation><inist:fA14 i1="03"><s1>Institute of Human Genetics, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
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</author>
<author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
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<author><name sortKey="Guzvic, Miodrag" sort="Guzvic, Miodrag" uniqKey="Guzvic M" first="Miodrag" last="Guzvic">Miodrag Guzvic</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>14 aut.</sZ>
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<affiliation><inist:fA14 i1="04"><s1>Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"</s1>
<s2>Belgrade</s2>
<s3>SRB</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
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</author>
<author><name sortKey="Butz, Elisabeth" sort="Butz, Elisabeth" uniqKey="Butz E" first="Elisabeth" last="Butz">Elisabeth Butz</name>
<affiliation><inist:fA14 i1="01"><s1>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck</s1>
<s2>Lübeck</s2>
<s3>DEU</s3>
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<author><name sortKey="Tonnies, Holger" sort="Tonnies, Holger" uniqKey="Tonnies H" first="Holger" last="Tönnies">Holger Tönnies</name>
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</author>
<author><name sortKey="Siebert, Reiner" sort="Siebert, Reiner" uniqKey="Siebert R" first="Reiner" last="Siebert">Reiner Siebert</name>
<affiliation><inist:fA14 i1="05"><s1>Institute of Human Genetics, Christian-Albrechts University</s1>
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<s3>DEU</s3>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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</author>
<author><name sortKey="Petrovic, Igor" sort="Petrovic, Igor" uniqKey="Petrovic I" first="Igor" last="Petrovic">Igor Petrovic</name>
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<author><name sortKey="Svetel, Marina" sort="Svetel, Marina" uniqKey="Svetel M" first="Marina" last="Svetel">Marina Svetel</name>
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<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<author><name sortKey="Kostic, Vladimir S" sort="Kostic, Vladimir S" uniqKey="Kostic V" first="Vladimir S." last="Kostic">Vladimir S. Kostic</name>
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<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
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<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>7 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCAII (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D.</div>
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<ET>Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15</ET>
<AU>WEISSBACH (Anne); DJARMATI (Ana); KLEIN (Christine); DRAGASEVIC (Nataša); ZÜHLKE (Christine); RAKOVIC (Aleksandar); GUZVIC (Miodrag); BUTZ (Elisabeth); TÖNNIES (Holger); SIEBERT (Reiner); PETROVIC (Igor); SVETEL (Marina); KOSTIC (Vladimir S.); LOHMANN (Katja)</AU>
<AF>Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck/Lübeck/Allemagne (1 aut., 2 aut., 3 aut., 6 aut., 7 aut., 8 aut., 14 aut.); Institute of Neurology, Clinical Center of Serbia/Belgrade/Serbie (4 aut., 11 aut., 12 aut., 13 aut.); Institute of Human Genetics, University of Lübeck/Lübeck/Allemagne (5 aut.); Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences "Vinca"/Belgrade/Serbie (7 aut.); Institute of Human Genetics, Christian-Albrechts University/Kiel/Allemagne (9 aut., 10 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 11; Pp. 1577-1582; Bibl. 15 ref.</SO>
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<EA>Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCAII (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D.</EA>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15

Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15

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