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GENATLAS PHENOTYPE
last update : 16-12-2015
Symbol SCABG
Location 13q33.1
Name spinocerebellar ataxia, with neurodegeneration of the cerebellum and the basal ganglia
Other name(s) spinocerebellar ataxia 27
Corresponding gene FGF14
Other symbol(s) SCA27
Main clinical features
  • early-onset tremor, dyskinesia, slowly progressive cerebellar ataxia
  • trembling of both hands, which was exacerbated by emotional stress and physical exercise; mild unsteadiness and ataxia of the upper limbs, especially under unusual circumstances, began at age 15 to 20 years
  • neurologic examination showed dysmetric saccades, disrupted ocular pursuit movements, gaze-evoked nystagmus, cerebellar dysarthria, and a high-frequency, small-amplitude tremor in both hands in most of the patients
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name fibroblast growth factor 14
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift      
    Remark(s)