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. Its prevalence at live birth is ∼4–5 × 10−6 to 5 × 10−5. CLN2 (11p15.5, Jansky-Bielschowsky disease) is a late juvenile type. The late-infantile neuronal ceroid lipofuscinosis (CLN5, 13q22) was attributed to a pepstatin-insensitive lysosomal peptidase or lysosomal transmembrane protein. CLN6 (15q21-q23) is another late infantile form. Some other variants with granular osmiophilic deposits and others have also been described. epilepsy, mental retardation, prevalence, pepstatin, Batten disease, synaptophysin, lipofuscin; Lehtovirta M et al 2001 Hum Mol Genet 10:69; Gao H et al 2002 Am J Hum Genet 70:324; Batten disease: http://www.ucl.ac.uk/ncl/.
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