Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Identifieur interne : 002283 ( Ncbi/Checkpoint ); précédent : 002282; suivant : 002284Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Auteurs : Christoph Globas [Allemagne] ; Sophie Tezenas Du Montcel ; Laslo Baliko ; Syliva Boesch ; Chantal Depondt ; Stefano Didonato ; Alexandra Durr ; Alessandro Filla ; Thomas Klockgether ; Caterina Mariotti ; Bela Melegh ; Maryla Rakowicz ; Pascale Ribai ; Rafal Rola ; Tanja Schmitz-Hubsch ; Sandra Szymanski ; Dagmar Timmann ; Bart P. Van De Warrenburg ; Peter Bauer ; Ludger ScholsSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Calcium Channels (genetics), DNA Mutational Analysis, Female, Gait Disorders, Neurologic (complications), Humans, Linear Models, Male, Middle Aged, Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Repressor Proteins (genetics), Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (complications), Spinocerebellar Ataxias (genetics), Trinucleotide Repeat Expansion (genetics), Young Adult.
- 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.
DOI: 10.1002/mds.22288
PubMed: 18759344
Affiliations:
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Van De Warrenburg</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22288</idno><idno type="RBID">pubmed:18759344</idno><idno type="pmid">18759344</idno><idno type="wicri:Area/PubMed/Corpus">002080</idno><idno type="wicri:Area/PubMed/Curation">002080</idno><idno type="wicri:Area/PubMed/Checkpoint">002327</idno><idno type="wicri:Area/Ncbi/Merge">002283</idno><idno type="wicri:Area/Ncbi/Curation">002283</idno><idno type="wicri:Area/Ncbi/Checkpoint">002283</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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="3"><nlm:affiliation>Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.</nlm: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><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="Du Montcel, Sophie Tezenas" sort="Du Montcel, Sophie Tezenas" uniqKey="Du Montcel S" first="Sophie Tezenas" last="Du Montcel">Sophie Tezenas Du Montcel</name></author><author><name sortKey="Baliko, Laslo" sort="Baliko, Laslo" uniqKey="Baliko L" first="Laslo" last="Baliko">Laslo Baliko</name></author><author><name sortKey="Boesch, Syliva" sort="Boesch, Syliva" uniqKey="Boesch S" first="Syliva" last="Boesch">Syliva Boesch</name></author><author><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name></author><author><name sortKey="Didonato, Stefano" sort="Didonato, Stefano" uniqKey="Didonato S" first="Stefano" last="Didonato">Stefano Didonato</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name></author><author><name sortKey="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name></author><author><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name></author><author><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name></author><author><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name></author><author><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name></author><author><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name></author><author><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name></author><author><name sortKey="Schmitz Hubsch, Tanja" sort="Schmitz Hubsch, Tanja" uniqKey="Schmitz Hubsch T" first="Tanja" last="Schmitz-Hubsch">Tanja Schmitz-Hubsch</name></author><author><name sortKey="Szymanski, Sandra" sort="Szymanski, Sandra" uniqKey="Szymanski S" first="Sandra" last="Szymanski">Sandra Szymanski</name></author><author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name></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></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schols">Ludger Schols</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</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>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>Trinucleotide Repeat Expansion (genetics)</term><term>Young Adult</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></textClass></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.</div></front></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>Bade-Wurtemberg</li><li>District de Tübingen</li></region><settlement><li>Tübingen</li></settlement></list><tree><noCountry><name sortKey="Baliko, Laslo" sort="Baliko, Laslo" uniqKey="Baliko L" first="Laslo" last="Baliko">Laslo Baliko</name><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Boesch, Syliva" sort="Boesch, Syliva" uniqKey="Boesch S" first="Syliva" last="Boesch">Syliva Boesch</name><name sortKey="Depondt, Chantal" sort="Depondt, Chantal" uniqKey="Depondt C" first="Chantal" last="Depondt">Chantal Depondt</name><name sortKey="Didonato, Stefano" sort="Didonato, Stefano" uniqKey="Didonato S" first="Stefano" last="Didonato">Stefano Didonato</name><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="Filla, Alessandro" sort="Filla, Alessandro" uniqKey="Filla A" first="Alessandro" last="Filla">Alessandro Filla</name><name sortKey="Klockgether, Thomas" sort="Klockgether, Thomas" uniqKey="Klockgether T" first="Thomas" last="Klockgether">Thomas Klockgether</name><name sortKey="Mariotti, Caterina" sort="Mariotti, Caterina" uniqKey="Mariotti C" first="Caterina" last="Mariotti">Caterina Mariotti</name><name sortKey="Melegh, Bela" sort="Melegh, Bela" uniqKey="Melegh B" first="Bela" last="Melegh">Bela Melegh</name><name sortKey="Rakowicz, Maryla" sort="Rakowicz, Maryla" uniqKey="Rakowicz M" first="Maryla" last="Rakowicz">Maryla Rakowicz</name><name sortKey="Ribai, Pascale" sort="Ribai, Pascale" uniqKey="Ribai P" first="Pascale" last="Ribai">Pascale Ribai</name><name sortKey="Rola, Rafal" sort="Rola, Rafal" uniqKey="Rola R" first="Rafal" last="Rola">Rafal Rola</name><name sortKey="Schmitz Hubsch, Tanja" sort="Schmitz Hubsch, Tanja" uniqKey="Schmitz Hubsch 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><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></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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