Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria

  title={Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria},
  author={Pirkko Santavuori and S-L. Vanhanen and Kimmo O Sainio and Markku Nieminen and Tiina Wallden and Jyrki Launes and Raili Raininko},
  journal={Journal of Inherited Metabolic Disease},
Neuronal ceroid-lipofuscinoses (NCL) are some of the most common progressive encephalopathies in the Western world (Rider and Rider 1988). They are especially common in Finland (Santavuori 1988), where INCL is the most common progressive disorder among infants. The incidence in Finland is 1:20000 and at June 1992 a total of 129 patients had been diagnosed. The clinical diagnosis of INCL is based on a typical history, and neurological, neurophysiological and neuroradiological findings. In the… CONTINUE READING