Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

@article{Stevanin2004MutationsIT,
  title={Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians},
  author={Giovanni Stevanin and Alexandra Durr and Christel Dussert and Christiane Penet and Alexis Brice},
  journal={Neurology},
  year={2004},
  volume={63},
  pages={936 - 936}
}
Spinocerebellar ataxias (SCAs) are heterogeneous dominantly inherited neurodegenerative disorders, clinically characterized by variable degrees of cerebellar and brainstem degeneration and dysfunction. Symptoms appear during the third or fourth decade: progressive cerebellar ataxia variably associated with ophthalmoplegia, pyramidal and extrapyramidal signs, deep sensory loss, amyotrophy, and dementia. At least 23 loci have been implicated, and nucleotide repeat expansions in nine different… 
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1. Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5 untranslated region of the
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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.
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
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.
Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
TLDR
A pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 personally examined affected members is described, and it is proposed that this condition may represent an addition to the group of neurogenetic disorders subsumed under the rubric SCA.
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
TLDR
A nonepisodic autosomal dominant spinocerebellar ataxia not caused by a nucleotide repeat expansion is reported that is, to the authors' knowledge, the first such SCA and suggests that there may be a common pathway for PKC gamma-related and polyglutamine-related neurodegeneration.