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GENATLAS PHENOTYPE

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

Remark(s)

mutation in the highly conserved GTP-effector domain of DNM2 (PMID: 26517984))