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GENATLAS PHENOTYPE
last update : 27-08-2014
Symbol SCA36
Location 20p13
Name spinocerebellar ataxia-36
Corresponding gene NOP56
Main clinical features
  • progressive neurodegenerative disorder characterized by adult-onset gait ataxia, eye movement abnormalities, tongue fasciculations, and variable upper motor neuron signs, and may develop hearing loss
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion   abnormal protein/loss of function heterozygous expansion of an intronic GGCCTG hexanucleotide repeat
    Remark(s)
  • unaffected individuals carry 3 to 14 repeats, whereas affected individuals carry 650 to 2500 repeats