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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-11-2016
Symbol SPG69
Location 19p13.2
Name spastic paraplegia 69
Corresponding gene DNM2
Main clinical features
  • young-adult onset of bilateral slowly progressive lower-limb spasticity, weakness and hyperreflexia progressing over two-to-three decades to wheel-chair dependency
  • in the advanced stage of the disease, some patients also had distal wasting of lower leg muscles, pes cavus, mildly decreased vibratory sense in the ankles, and urinary urgency along with electrophysiological evidence of a mild distal motor/sensory axonopathy
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
  • mutation in the highly conserved GTP-effector domain of DNM2 (PMID: 26517984))