Kufs’ disease is a rare, adult-onset form of a group of neurodegenerative disorders known as neuronal ceroid lipofuscinoses (NCLs). Although some of the genetic and cellular defects underlying early-onset, inherited NCLs have been identified, the causes of Kufs’ disease are less clear. Through genetic analyses of American Staffordshire terriers that suffer from a late-onset form of NCL, Abitbol et al. uncovered a role for a lysosomal sulfatase, arylsulfatase G (ARSG), in disease pathology. The researchers found that an NCL-associated mutation near the region of ARSG encoding the enzyme’s catalytic domain caused a 75% reduction in its sulfatase activity, supporting previous findings that lysosomal defects underlie NCLs. These findings reveal a role for ARSG in regulating neuronal homeostasis and open up the possibility that sulfatase deficiency might cause or modify the pathology of NCLs in humans.

Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hédan B, Dréano S, Brahimi S, et al.  (2010). A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc. Natl. Acad. Sci. USA Aug 2 [Epub ahead of print] [doi: https://doi.org/10.1073/pnas.0914206107]
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2010