Clinical and biochemical studies of Japanese neuronal ceroid-lipofuscinosis
1988; Wiley; Volume: 31; Issue: S5 Linguagem: Inglês
10.1002/ajmg.1320310609
ISSN1096-8628
AutoresYoshikatsu Eto, Takashi Tsuda, Toya Ohhashi, Shuichi Yamaguchi, Akira Okuno, John M. Opitz, James F. Reynolds, Raju K. Pullarkat,
Tópico(s)RNA regulation and disease
ResumoWe studied clinical manifestations of Japanese patients with neuronal ceroid-lipofuscinosis (NCL). The onset of the disease and initial symptoms were almost identical to those reported previously in Caucasians. Japanese patients with NCL significantly clinically different from Caucasian cases. An atypical case NCL associated with a deficiency of diaminobenzidine peroxidase activity was also presented. Pathogenesis of NCL was studied on the basis of urine dolichol excretion, autofluorescent compounds in urine, thiol protease activities and protein analysis in tissues of NCL patients. Possible biochemical abnormalities in NCL are discussed.
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