LATE-ONSET JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (GROD)

The juvenile-onset subtype of the neuronal ceroid lipofuscinoses (JNCL ) is well known [Hofman, ISBN90-71534-19-7 1990] and ultrastructurally characterized by fingerprints and/or curvilinear bodies in many cell types, Linkage studies indicated a most likely location for CLN3, the gene involved in JNCL, in the interval between loci D16S297 and D16S57 , within close proximity of the loci D16S298 and D16S299 [Mitchison et al., Genomics 22:465-468, 1993], We present two sibs with a late onse t progressive disease of mental deterioration, progressive macular deg eneration, motor disturbances, and epilepsy, Histological symptoms of neuronal ceroid lipofuscinosis and ultrastructural granular osmiophili c deposits (GROD) in lymphocytes and neurons are found, Individual hap lotypes at polymorphic marker loci on chromosome 16 were constructed t o determine whether JNCL with GROD is linked to the CLN3 locus. (C) 19 95 Wiley-Liss, Inc.