First African-American child with juvenile neuronal ceroid lipofuscinosis.

  title={First African-American child with juvenile neuronal ceroid lipofuscinosis.},
  author={Cem M. Inan and Debbie Wong and Krystyna E. Wisniewski and Arthur L Rose and Maria A. Musarella},
  journal={American journal of medical genetics},
  volume={79 5},
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… CONTINUE READING


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