Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
Identifieur interne : 000D41 ( Istex/Curation ); précédent : 000D40; suivant : 000D42Early 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.
English descriptors
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
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DOI: 10.1002/mds.22288
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Besta, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="1"><mods:affiliation>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>APHP, Département de Génétique et Cytogénétique, Hôpital de la Salpêtrière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Département de Génétique et Cytogénétique, Hôpital de la Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bonn, Bonn, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name><affiliation wicri:level="1"><mods:affiliation>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary</mods:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Medical Genetics and Child Development, University of Pécs, Pécs</wicri:regionArea></affiliation></author><author><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name><affiliation wicri:level="1"><mods:affiliation>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name><affiliation wicri:level="1"><mods:affiliation>First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Bonn, Bonn, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Szymanski, Sandra" sort="Szymanski, Sandra" uniqKey="Szymanski S" first="Sandra" last="Szymanski">Sandra Szymanski</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum, Bochum</wicri:regionArea></affiliation></author><author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Essen, Essen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Essen, Essen</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Nijmegen, Nijmegen, Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University of Nijmegen, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Medical Genetics, University of Tübingen, Tübingen</wicri:regionArea></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:774E96BE53FDFBCE50AAC6A421D8EBD1E7002300</idno><date when="2008" year="2008">2008</date><idno type="doi">10.1002/mds.22288</idno><idno type="url">https://api.istex.fr/document/774E96BE53FDFBCE50AAC6A421D8EBD1E7002300/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000D41</idno><idno type="wicri:Area/Istex/Curation">000D41</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6</title><author><name sortKey="Globas, Christoph" sort="Globas, Christoph" uniqKey="Globas C" first="Christoph" last="Globas">Christoph Globas</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea></affiliation></author><author><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><affiliation wicri:level="1"><mods:affiliation>Modelling in Clinical Research, EA 3974, Pierre and Marie Curie Paris 6 University, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Modelling in Clinical Research, EA 3974, Pierre and Marie Curie Paris 6 University, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>AP‐HP, Biostatistics and Medical Informatics Unit, Pitié‐Salpêtrière Hospital, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP‐HP, Biostatistics and Medical Informatics Unit, Pitié‐Salpêtrière Hospital, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Baliko, Laslo" sort="Baliko, Laslo" uniqKey="Baliko L" first="Laslo" last="Baliko">Laslo Baliko</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology and Stroke, County Hospital, Veszprém, Hungary</mods:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Neurology and Stroke, County Hospital, Veszprém</wicri:regionArea></affiliation></author><author><name sortKey="Boesch, Syliva" sort="Boesch, Syliva" uniqKey="Boesch S" first="Syliva" last="Boesch">Syliva Boesch</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Innsbruck, Innsbruck, Austria</mods:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Department of Neurology, University of Innsbruck, Innsbruck</wicri:regionArea></affiliation></author><author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Brussels, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, University of Brussels, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Didonato, Stefano" sort="Didonato, Stefano" uniqKey="Didonato S" first="Stefano" last="Didonato">Stefano Didonato</name><affiliation wicri:level="1"><mods:affiliation>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="1"><mods:affiliation>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>APHP, Département de Génétique et Cytogénétique, Hôpital de la Salpêtrière, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>APHP, Département de Génétique et Cytogénétique, Hôpital de la Salpêtrière, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Bonn, Bonn, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name><affiliation wicri:level="1"><mods:affiliation>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Biochemistry and Genetics, Fondazione Instituto Neurologico C. Besta, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary</mods:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Medical Genetics and Child Development, University of Pécs, Pécs</wicri:regionArea></affiliation></author><author><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Clinical Neurophysiology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea></affiliation></author><author><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name><affiliation wicri:level="1"><mods:affiliation>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, Hôpital de la Salpêtrière, UMR 679, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name><affiliation wicri:level="1"><mods:affiliation>First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Bonn, Bonn, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea></affiliation></author><author><name sortKey="Szymanski, Sandra" sort="Szymanski, Sandra" uniqKey="Szymanski S" first="Sandra" last="Szymanski">Sandra Szymanski</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum, Bochum, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr‐University Bochum, Bochum</wicri:regionArea></affiliation></author><author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Essen, Essen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Essen, Essen</wicri:regionArea></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="1"><mods:affiliation>Department of Neurology, University of Nijmegen, Nijmegen, Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Neurology, University of Nijmegen, Nijmegen</wicri:regionArea></affiliation></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, University of Tübingen, Tübingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Medical Genetics, University of Tübingen, Tübingen</wicri:regionArea></affiliation></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea></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>CAG repeat expansion</term><term>determinants of age at onset</term><term>early symptoms</term><term>spinocerebellar ataxia</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></record>Pour manipuler ce document sous Unix (Dilib)
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|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:774E96BE53FDFBCE50AAC6A421D8EBD1E7002300
|texte= Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
}}
| This area was generated with Dilib version V0.6.23. |  |