Ceroid Lipofuscinosis (NCL)
Ceroid Lipofuscinosis is, apparently, autosomal recessive (assigned to several chromosomes). Brown ceroid (wax-like) deposits in several internal organs, including the nervous system, causes spasms and mental retardation. The infantile subtype (CNL1) was located to chromosome 1p32 and it involves rapidly progressing mental deterioration due to a deficiency of palmitoyl protein thioesterase. Its prevalence is about 1/12,500. CNL3 (16q12.1) or Batten disease/Vogt-Spielmeyer disease involves neuronal degeneration, loss of brain material, and retinal atrophy. The affects are either a lysosome-associated membrane protein or neuronal synaptophysin.