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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-02-2013
Symbol CLN11
Location 17q21.31
Name ceroid lipofuscinosis, neuronal, 11
Corresponding gene GRN
Main clinical features
  • neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy
  • cerebellar ataxia, early cognitive deterioration, and retinal dystrophy
  • at EEG, generalized polyspike wave discharges, ERG showed severe attenuation of both rod and cone responses, and MRI showed cerebellar atrophy
  • electron microscopic examination of a skin biopsy demonstrated numerous fingerprint profiles in membrane-bound structures in eccrine secretory cells and in endothelium, consistent with CLN
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease