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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-08-2016
Symbol SNDC
Location 16q22.1
Name striatonigral degeneration, childhood-onset
Corresponding gene VAC14
Main clinical features
  • onset of a neurodegenerative disorder after normal early development; in infancy, abnormal dystonic gait with frequent falls and subsequent dystonia of the upper limbs, with rapid escalation of the symptoms, and increased serum creatine kinase ; dystonic movements of the face, limbs, and trunk associated with loss of the ability to walk independently
  • brain imaging showed progressive abnormal T2-weighted hyperintensities in the striatum, with subtle hypointensities in the substantia nigra
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease