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Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Authors

  • Esther Brusse MD,

    Corresponding author
    1. Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    • Erasmus MC University Medical Center Rotterdam, Department of Neurology, PO Box 1738, 3000 DR Rotterdam, The Netherlands

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  • Inge de Koning PhD,

    1. Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    2. Section Neuropsychology, Erasmus MC University Medical Center Rotterdam, The Netherlands
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  • Anneke Maat-Kievit PhD,

    1. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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  • Ben A. Oostra PhD,

    1. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
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  • Peter Heutink PhD,

    1. Section Medical Genomics, Department of Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    2. Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
    3. Center for Neurogenomics and Cognitive Research, VU University Medical Center and Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
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  • John C. van Swieten PhD

    1. Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
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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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