Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
Identifieur interne : 000291 ( France/Analysis ); précédent : 000290; suivant : 000292Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
Auteurs : Christoph Globas [Allemagne] ; Sophie Tezenas Du Montcel [France] ; Laslo Baliko [Hongrie] ; Syliva Boesch [Autriche] ; Chantal Depondt [Belgique] ; Stefano Didonato [Italie] ; Alexandra Durr [France] ; Alessandro Filla [Italie] ; Thomas Klockgether [Allemagne] ; Caterina Mariotti [Italie] ; Bela Melegh [Hongrie] ; Maryla Rakowicz [Pologne] ; Pascale Ribai [France] ; Rafal Rola [Pologne] ; Tanja Schmitz-Hubsch [Allemagne] ; Sandra Szymanski [Allemagne] ; Dagmar Timmann [Allemagne] ; Bart P. Van De Warrenburg [Pays-Bas] ; Peter Bauer [Allemagne] ; Ludger Schols [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Age of onset, Aged, Aged, 80 and over, CAG repeat expansion, Calcium Channels (genetics), DNA Mutational Analysis, Female, Gait Disorders, Neurologic (complications), Humans, Linear Models, Male, Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear Proteins (genetics), Repressor Proteins (genetics), Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, Trinucleotide Repeat Expansion (genetics), Young Adult, determinants of age at onset, early symptoms, spinocerebellar ataxia.
- MESH :
- chemical , genetics : Calcium Channels, Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins.
- classification : Spinocerebellar Ataxias.
- complications : Gait Disorders, Neurologic, Spinocerebellar Ataxias.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- Adolescent, Adult, Aged, Aged, 80 and over, DNA Mutational Analysis, Female, Humans, Linear Models, Male, Middle Aged, Young Adult.
Abstract
Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of symptoms. We investigated early symptoms in 287 patients with SCA1, SCA2, SCA3, or SCA6 and calculated the influence of CAG repeat length on age of onset depending on (1) the definition of disease onset, (2) people defining onset, and (3) duration of symptoms. Gait difficulty was the initial symptom in two‐thirds of patients. Double vision, dysarthria, impaired hand writing, and episodic vertigo preceded ataxia in 4% of patients, respectively. Frequency of other early symptoms did not differ from controls and was regarded unspecific. Data about disease onset varied between patients and relatives for 1 year or more in 44% of cases. Influence of repeat length on age of onset was maximum when onset was defined as beginning of permanent gait disturbance and cases with symptoms for more than 10 years were excluded. Under these conditions, CAG repeat length determined 64% of onset variability in SCA1, 67% in SCA2, 46% in SCA3, and 41% in SCA6 demonstrating substantial influence of nonrepeat factors on disease onset in all SCA subtypes. Identification of these factors is of interest as potential targets for disease modifying compounds. In this respect, recognition of early symptoms that develop before onset of ataxia is mandatory to determine the shift from presymptomatic to affected status in SCA. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22288
Affiliations:
- Allemagne, Autriche, Belgique, France, Hongrie, Italie, Pays-Bas, Pologne
- Bade-Wurtemberg, District de Cologne, District de Tübingen, Gueldre, Lombardie, Rhénanie-du-Nord-Westphalie, Région de Bruxelles-Capitale
- Bonn, Bruxelles, Milan, Nimègue, Paris, Tübingen
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ISTEX:774E96BE53FDFBCE50AAC6A421D8EBD1E7002300Le document en format XML
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Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name><affiliation wicri:level="1"><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Medical Genetics and Child Development, University of Pécs, Pécs</wicri:regionArea><wicri:noRegion>Pécs</wicri:noRegion></affiliation></author><author><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea><wicri:noRegion>Warsaw</wicri:noRegion></affiliation></author><author><name sortKey="Schmitz Ubsch, Tanja" sort="Schmitz Ubsch, Tanja" uniqKey="Schmitz Ubsch T" first="Tanja" last="Schmitz-Hubsch">Tanja Schmitz-Hubsch</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Szymanski, Sandra" sort="Szymanski, Sandra" uniqKey="Szymanski S" first="Sandra" last="Szymanski">Sandra Szymanski</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. Van De Warrenburg</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University of Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Medical Genetics, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-11-15">2008-11-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">15</biblScope><biblScope unit="page" from="2232">2232</biblScope><biblScope unit="page" to="2238">2238</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">774E96BE53FDFBCE50AAC6A421D8EBD1E7002300</idno><idno type="DOI">10.1002/mds.22288</idno><idno type="ArticleID">MDS22288</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of onset</term><term>Aged</term><term>Aged, 80 and over</term><term>CAG repeat expansion</term><term>Calcium Channels (genetics)</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gait Disorders, Neurologic (complications)</term><term>Humans</term><term>Linear Models</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Repressor Proteins (genetics)</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (complications)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</term><term>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</term><term>determinants of age at onset</term><term>early symptoms</term><term>spinocerebellar ataxia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium Channels</term><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gait Disorders, Neurologic</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Spinocerebellar Ataxias</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Linear Models</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Age apparition</term><term>Ataxie spinocérébelleuse</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the nervous system and huge variability of symptoms. We investigated early symptoms in 287 patients with SCA1, SCA2, SCA3, or SCA6 and calculated the influence of CAG repeat length on age of onset depending on (1) the definition of disease onset, (2) people defining onset, and (3) duration of symptoms. Gait difficulty was the initial symptom in two‐thirds of patients. Double vision, dysarthria, impaired hand writing, and episodic vertigo preceded ataxia in 4% of patients, respectively. Frequency of other early symptoms did not differ from controls and was regarded unspecific. Data about disease onset varied between patients and relatives for 1 year or more in 44% of cases. Influence of repeat length on age of onset was maximum when onset was defined as beginning of permanent gait disturbance and cases with symptoms for more than 10 years were excluded. Under these conditions, CAG repeat length determined 64% of onset variability in SCA1, 67% in SCA2, 46% in SCA3, and 41% in SCA6 demonstrating substantial influence of nonrepeat factors on disease onset in all SCA subtypes. Identification of these factors is of interest as potential targets for disease modifying compounds. In this respect, recognition of early symptoms that develop before onset of ataxia is mandatory to determine the shift from presymptomatic to affected status in SCA. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Belgique</li><li>France</li><li>Hongrie</li><li>Italie</li><li>Pays-Bas</li><li>Pologne</li></country><region><li>Bade-Wurtemberg</li><li>District de Cologne</li><li>District de Tübingen</li><li>Gueldre</li><li>Lombardie</li><li>Rhénanie-du-Nord-Westphalie</li><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bonn</li><li>Bruxelles</li><li>Milan</li><li>Nimègue</li><li>Paris</li><li>Tübingen</li></settlement></list><tree><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Globas, Christoph" sort="Globas, Christoph" uniqKey="Globas C" first="Christoph" last="Globas">Christoph Globas</name></region><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><name sortKey="Schmitz Ubsch, Tanja" sort="Schmitz Ubsch, Tanja" uniqKey="Schmitz Ubsch T" first="Tanja" last="Schmitz-Hubsch">Tanja Schmitz-Hubsch</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name><name sortKey="Szymanski, Sandra" sort="Szymanski, Sandra" uniqKey="Szymanski S" first="Sandra" last="Szymanski">Sandra Szymanski</name><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name></country><country name="France"><noRegion><name sortKey="Du Montcel, Sophie Tezenas" sort="Du Montcel, Sophie Tezenas" uniqKey="Du Montcel S" first="Sophie Tezenas" last="Du Montcel">Sophie Tezenas Du Montcel</name></noRegion><name sortKey="Du Montcel, Sophie Tezenas" sort="Du Montcel, Sophie Tezenas" uniqKey="Du Montcel S" first="Sophie Tezenas" last="Du Montcel">Sophie Tezenas Du Montcel</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name></country><country name="Hongrie"><noRegion><name sortKey="Baliko, Laslo" sort="Baliko, Laslo" uniqKey="Baliko L" first="Laslo" last="Baliko">Laslo Baliko</name></noRegion><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name></country><country name="Autriche"><noRegion><name sortKey="Boesch, Syliva" sort="Boesch, Syliva" uniqKey="Boesch S" first="Syliva" last="Boesch">Syliva Boesch</name></noRegion></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name></region></country><country name="Italie"><region name="Lombardie"><name sortKey="Didonato, Stefano" sort="Didonato, Stefano" uniqKey="Didonato S" first="Stefano" last="Didonato">Stefano Didonato</name></region><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name></country><country name="Pologne"><noRegion><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name></noRegion><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. 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