First African-American child with juvenile neuronal ceroid lipofuscinosis

✍ Scribed by ?nan, Cigdem; Wong, David; Wisniewski, Krystina E.; Rose, Arthur L.; Musarella, Maria A.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 6 KB
• Volume: 79
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19981012)79:5<335::aid-ajmg1>3.0.co;2-i

✦ Synopsis

The neuronal ceroid lipofuscinoses are among the most common forms of progressive neurodegenerative disease of childhood. They appear to be panethnic, but there is a special predilection of the infantile subtype in Finland. In the United States, the Batten disease registry of 731 cases shows that juvenile neuronal ceroid lipofuscinosis (JNCL) is the most common form. Here, we report on the first known African-American child with JNCL. Genetic study showed the 1.02-kb deletion typically seen in JNCL cases. Am.