Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
- 9 March 2006
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 21 (3), 396-401
- https://doi.org/10.1002/mds.20708
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 SocietyKeywords
This publication has 16 references indexed in Scilit:
- Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxiasEuropean Journal of Human Genetics, 2004
- Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in CaucasiansNeurology, 2004
- Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesisThe Lancet Neurology, 2004
- Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)Annals of Neurology, 2003
- A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral AtaxiaAmerican Journal of Human Genetics, 2003
- Ataxia and Paroxysmal Dyskinesia in Mice Lacking Axonally Transported FGF14Neuron, 2002
- Clinical and genetic analysis of 4 Mexican families with spinocerebellar ataxia type 10Annals of Neurology, 2001
- Fibroblast Growth Factors In The Developing Central Nervous SystemClinical and Experimental Pharmacology and Physiology, 2001
- Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia.Zeitschrift für Neurologie, 2001
- Spinocerebellar Ataxia Type 2Archives of Neurology, 1997