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GENATLAS PHENOTYPE
last update : 8/09/2006
Symbol SANDO
Location 15q26.1
Name sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Corresponding gene POLG
Main clinical features
  • progressive disorder that starts with episodic symptoms such as migraine-like headache or epilepsy
  • gait and limb ataxia, dysarthria, dysphagia, nystagmus, hyporeflexia, decreased vibration and position sense, and mild cognitive impairment
  • at MRI, signal changes in the central cerebellum, olivary nuclei, occipital cortex, and thalami
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name polymerase (DNA directed), gamma
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown  
    Remark(s)