A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.

@article{Abitbol2010ACA,
  title={A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.},
  author={Marie Abitbol and Jean-Laurent Thibaud and Natasha J Olby and Christophe Hitte and Jean-Philippe Puech and Marie Maurer and Fanny Pilot-Storck and Beno{\^i}t H{\'e}dan and St{\'e}phane Dr{\'e}ano and Sandra Brahimi and Delphine Delattre and Catherine Andr{\'e} and Françoise Gray and Françoise Delisle and Catherine Caillaud and Florence Bernex and J N Panthier and Genevi{\`e}ve Aubin-Houzelstein and St{\'e}phane Blot and Laurent Tiret},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2010},
  volume={107 33},
  pages={14775-80}
}
Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by progressive loss of vision, mental and motor deterioration, epileptic seizures, and premature death. Rare adult forms of NCL with late onset are known as Kufs' disease. Loci underlying these adult forms remain unknown due to the small number of patients and genetic heterogeneity. Here we confirm that a late-onset form of NCL recessively… CONTINUE READING
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