Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor

@article{Zhao2007GeneticAO,
  title={Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor},
  author={Yi Zhao and Shulammite Lim and Eng King Tan},
  journal={American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  year={2007},
  volume={144B}
}
  • Yi Zhao, Shulammite Lim, E. Tan
  • Published 5 April 2007
  • Medicine, Biology
  • American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Spinocerebellar ataxia (SCA) refers to a group of inherited neurodegenerative disorders, characterized by variable degrees of cerebellar and brainstem degeneration with or without other neurological system dysfunction [Tan and Ashizawa, 2001]. Genetic tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs [Tan and Ashizawa, 2001; Schöls et al., 2004]. Recently a F145S mutation in exon 4 of the fibroblast growth factor 14 (FGF14) gene (SCA27) on chromosome… 

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TLDR
The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia, and a mutation in the fibroblast growth factor 14 gene on chromosome 13q34 is described.
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Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
TLDR
14 patients of a Dutch pedigree displaying a distinct SCA‐phenotype associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chromosome 13q34 show a childhood‐onset postural tremor and a slowly progressive ataxia evolving from young adulthood.
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
TLDR
The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia, and a mutation in the fibroblast growth factor 14 gene on chromosome 13q34 is described.