Orphanet: Kufs disease

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Adult neuronal ceroid lipofuscinosis

Disease definition

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


Classification level: Disorder
  • Synonym(s):
    • ANCL
    • Adult NCL
    • Kufs disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E75.4
  • OMIM: 162350  204300  256730  601780  610127  614706  615362
  • UMLS: C0022797
  • MeSH: C537950
  • GARD: 10973
  • MedDRA: -

Detailed information


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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