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Kufs disease information


Kufs disease
Other namesAdult neuronal ceroid lipofuscinosis, ANCL, Adult NCL

Kufs disease is one of many diseases categorized under a disorder known as neuronal ceroid lipofuscinosis (NCLs) or Batten disease. NCLs are broadly described to create problems with vision, movement and cognitive function.[1] Among all NCLs diseases, Kufs is the only one that does not affect vision, and although this is a distinguishing factor of Kufs, NCLs are typically differentiated by the age at which they appear in a patient[2]

  1. ^ Pardo, C.; et al. (1994). "Accumulation of the adenosine triphosphate synthase subunit c in the mnd mutant mouse". Am J Pathol. 144 (4): 829–835. PMC 1887237. PMID 8160780. There are more than eight variants of NCL, found in 1 in 12,500 people worldwide.
  2. ^ Wisnewsky, Krystyna E; et al. (2006). "Neuronal Ceroid Lipofuscinoses". GeneReviews (NCBI).

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