DIAGNOSES OF NEURONAL CEROID-LIPOFUSCINOSIS BY IMMUNOCHEMICAL METHODS

The neuronal ceroid-lipofuscinoses (NCL), also known as Batten disease , are a not uncommon group of disorders affecting infants, children, a nd young adults, The abnormal ultrastructural profiles seen in NCL are used for standard diagnosis; however, they can be missed, and are als o found in other neurodegenerative conditions, Furthermore, there is a n overlap between the types of inclusion profiles among the different forms of NCL, Therefore, a more specific and biochemically-based marke r is necessary to confirm the diagnosis of NCL, Antibodies raised agai nst the storage material from the ovine form of NCL (mitochondrial ATP synthase subunit c) were utilized to determine whether NCL could be d istinguished from other metabolic-neurodegenerative disorders, By immu noblotting and immunohistochemistry, several brain samples of well-eva luated NCL cases confirmed increased accumulations in all NCL cases ex cept in the brain of an infantile-onset NCL patient, The immunoblot st udies of skin fibroblasts and brain were sensitive but not highly spec ific to NCL, due to the recognition of this material in normal control s as well as in other neurogenetic diseases, Immunocytochemistry of sk in fibroblasts clearly distinguished LINCL and JNCL cases from control s, and with further refinement has the potential for becoming a diagno stic tool. (C) 1995 Wiley-Liss, Inc.