Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis (NCL) is one of the most common inherited ne urological diseases in childhood. It occurs every 12,500 births in northern -European populations. Mental retardation, visual impairment, and seizures are common symptoms. The prevalence of NCL is variable depending upon the r aces or countries. Although a wealth information is available in Caucasian populations, there is little information about NCL in Asian people. Because a nationwide survey in Japanese patients with NCL has never been performed , we pursued an epidemiological survey. We identified 36 NCL patients in Ja pan. Patients with infantile, late infantile, juvenile, and adult type acco unted for 2, 15, 15, and 4 cases, respectively. Seizures were a major initi al symptom in the late infantile type. In the juvenile type, visual failure was present in 73% at onset. Recently, the juvenile NCL (Batten disease) g ene has been isolated. Studies of the mutations in this gene demonstrated t hat a 1.02-kb deletion was the most prevalent mutation among Caucasian pati ents, accounting for 81% of total alleles. To determine the prevalence of t his 1.02-kb deletion in Japanese patients, we performed a rapid allele-spec ific polymerase chain reaction test. No 1.02-kb major deletion was detected in 5 Japanese juvenile NCL cases. These data suggest that the distribution of NCL and clinical findings are similar to those of Caucasian subjects; h owever, prevalence of mutations in Japanese patients with NCL would be dist inct from that observed in Caucasians. (C) 1999 Academic Press.