Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
| Autor: | Esther Brusse, John C. van Swieten, Inge de Koning, Ben A. Oostra, Peter Heutink, Anneke Maat-Kievit |
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| Rok vydání: | 2005 |
| Předmět: |
medicine.medical_specialty
Neurodegeneration Neurological disorder medicine.disease Central nervous system disease Endocrinology Degenerative disease Neurology Dyskinesia Internal medicine Basal ganglia medicine Spinocerebellar ataxia Cerebellar atrophy Neurology (clinical) medicine.symptom Psychology |
| Zdroj: | Movement Disorders. 21:396-401 |
| ISSN: | 0885-3185 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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