Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. Clinical symptoms include seizures, progressive encephalopathy, visual failure, and motor abnormalities. Mutations in the TPP1 gene, that encodes the lysosomal enzyme tripeptidyl-peptidase 1, cause this disease.
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramirez AM, Noher de Halac I
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Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Williams R, Vesa J, Jarvela I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, et al.
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Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
