Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs'' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs'' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance.
Jean-Jacques Martin, MD, Born-Bunge Foundation-Gebouw T-Room 5–18, Universitaire Instelling Antwerpen, Universiteitsplein, 1, B–2610 Wilrijk-Antwerp (Belgium)
Number of Print Pages : 8
Vol. 13, No. 4-5, Year 1991 (Cover Date: 1991)
Journal Editor: Campagnoni, A.T. (Los Angeles, Calif.)
ISSN: 0378–5866 (print), 1421–9859 (Online)
For additional information: http://www.karger.com/DNE
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