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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-02-2017
Symbol APBN
Location 3p12.2
Name adult polyglucosan body neuropathy
Corresponding gene GBE1
Other symbol(s) APBD
Main clinical features
  • late-onset, slowly progressive disorder affecting the central and peripheral nervous systems; onset after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder; other manifestations include cerebellar dysfunction and extrapyramidal signs
  • loss of vibration sense in the lower limbs associated with an axonal sensorimotor polyneuropathy with reduced compound motor action potentials; sural nerve biopsy showed abundant intraaxonal polyglucosan bodies
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease