Cerebral choline acetyltransferase and acetylcholinesterase activities in a Sanfilippo syndrome, in a myoclonic epilepsy and in various zones of the human newborn brain

Acetylcholinesterase (AChE) and choline acetyltransferase (ChAT) activities were measured in the brain of two cases: a Sanfilippo syndrome and a myoclonic epilepsy. Both AChE and ChAT activities were decreased in the Sanfilippo mucopolysaccharidosis, while only ChAT was decreased in the myoclonic epilepsy. These findings can be related to the epileptic phenomena and/or to the degenerative processes which take place in the cerebral cholinergic pathways, due to the dismetabolic diseases. ChAT and AChE activities were also analyzed in different brain regions of an 8 day old newborn infant. The highest activity was not found in the basal nuclei, but in the cerebellum which is known, in the adult, to contain very little AChE and ChAT activities.