Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
Identifieur interne : 001C45 ( Istex/Checkpoint ); précédent : 001C44; suivant : 001C46Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
Auteurs : Esther Brusse [Pays-Bas] ; Inge De Koning [Pays-Bas] ; Anneke Maat-Kievit [Pays-Bas] ; Ben A. Oostra [Pays-Bas] ; Peter Heutink [Pays-Bas] ; John C. Van Swieten [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-03.
English descriptors
Abstract
Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. The patients showed a childhood‐onset postural tremor and a slowly progressive ataxia evolving from young adulthood. Dyskinesia was often present, suggesting basal ganglia involvement, which was supported by functional imaging in 1 patient. Magnetic resonance imaging (MRI) of the brain showed only moderate cerebellar atrophy in the 2 eldest patients. Neuropsychological testing indicated low IQ and deficits in memory and executive functioning. Behavioral problems were also observed. Further investigations will have to determine the role of FGF14 in the pathogenesis of neurodegeneration and the frequency of this FGF14 mutation in SCA. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20708
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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="2006-03">2006-03</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="396">396</biblScope><biblScope unit="page" to="401">401</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">30797DCE7BD17590B2DE885557FD694BA7BA2050</idno><idno type="DOI">10.1002/mds.20708</idno><idno type="ArticleID">MDS20708</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>FGF14 mutation</term><term>dyskinesia</term><term>postural tremor</term><term>spinocerebellar ataxia (SCA)</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34. The patients showed a childhood‐onset postural tremor and a slowly progressive ataxia evolving from young adulthood. Dyskinesia was often present, suggesting basal ganglia involvement, which was supported by functional imaging in 1 patient. Magnetic resonance imaging (MRI) of the brain showed only moderate cerebellar atrophy in the 2 eldest patients. Neuropsychological testing indicated low IQ and deficits in memory and executive functioning. Behavioral problems were also observed. Further investigations will have to determine the role of FGF14 in the pathogenesis of neurodegeneration and the frequency of this FGF14 mutation in SCA. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Rotterdam</li></settlement></list><tree><country name="Pays-Bas"><noRegion><name sortKey="Brusse, Esther" sort="Brusse, Esther" uniqKey="Brusse E" first="Esther" last="Brusse">Esther Brusse</name></noRegion><name sortKey="De Koning, Inge" sort="De Koning, Inge" uniqKey="De Koning I" first="Inge" last="De Koning">Inge De Koning</name><name sortKey="De Koning, Inge" sort="De Koning, Inge" uniqKey="De Koning I" first="Inge" last="De Koning">Inge De Koning</name><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><name sortKey="Heutink, Peter" sort="Heutink, Peter" uniqKey="Heutink P" first="Peter" last="Heutink">Peter Heutink</name><name sortKey="Maat Ievit, Anneke" sort="Maat Ievit, Anneke" uniqKey="Maat Ievit A" first="Anneke" last="Maat-Kievit">Anneke Maat-Kievit</name><name sortKey="Oostra, Ben A" sort="Oostra, Ben A" uniqKey="Oostra B" first="Ben A." last="Oostra">Ben A. Oostra</name><name sortKey="Van Swieten, John C" sort="Van Swieten, John C" uniqKey="Van Swieten J" first="John C." last="Van Swieten">John C. Van Swieten</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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