title: Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.
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. (c) 2005 Movement Disorder Society.
authors.affiliation: Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands. e.brusse.1@erasmusmc.nl
authors.forename: Esther
authors.initials: E
authors.lastname: Brusse
authors.forename: Inge
authors.initials: I
authors.lastname: de Koning
authors.forename: Anneke
authors.initials: A
authors.lastname: Maat-Kievit
authors.forename: Ben A
authors.initials: BA
authors.lastname: Oostra
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
mesh_terms: D000328:Adult; D000368:Aged; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D005346:Fibroblast Growth Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000235:genetics*
chemical_list: C112971:fibroblast growth factor 14; D005346:Fibroblast Growth Factors