A VARIANT FORM OF LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS (CLN5) IS NOT AN ALLELIC FORM OF BATTEN (SPIELMEYER-VOGT-SJOGREN, CLN3) DISEASE - EXCLUSION OF LINKAGE TO THE CLN3 REGION OF CHROMOSOME-16

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neu rodegenerative disorders characterized by the accumulation of autofluo rescent lipopigment in neurons and other cell types. The biochemical b asis of these diseases is unknown. Three main childhood forms are reco gnized: infantile (Santavuori-Haltia disease, CLN1), late infantile (J ansky-Bielschowsky disease, CLN2), and juvenile (Spielmeyer-Vogt-Sjogr en, Batten disease, CLN3). The CLN1 gene has been mapped to chromosome 1p and CLN3 to chromosome 16p by linkage analysis (1, 2). The gene lo cus causing the classical late infantile form (CLN2) has not yet been mapped but has been excluded from both CLN1 and CLN3 loci (8). About 1 0% of NCL cases have atypical clinical features with most of these res embling the late infantile form. (C) 1994 Academic Press, Inc.