Abstract
A careful survey of Czech neuronal ceroid-lipofuscinosis (NCL) cases showed a very different distribution of NCL forms in this country in comparison with other European countries. Two relatively large groups of patients have the diagnosis of the late infantile form (LINCL, CLN2) and the variant of late infantile or early juvenile form of NCL (not linked to chromosome 13).
The diagnosis was made according to established histological criteria. The group of the early juvenile NCL (CLN6, recently linked to chromosome 15q21-23) comprises 27 patients.
In 12 of 17 cases motor nerve conduction velocities were slow. All EEG records were abnormal.
Characteristic discharges during photo-stimulation were seen in 8 of 19 cases. ERG was absent in all cases.
In 7 of 11 tests high amplitude flash VEPs Were elicited. High amplitude m-SEPs were recorded in 5 of 8 patients.
Low amplitudes of wave III and V of NAEP were seen in 4 of 8 cases. Late infantile NCL (Jansky-Bielschowsky, CLN2, llpl5) was diagnosed in 26 cases.
In 4 of 7 cases motor nerve conduction velocities were slowed. EEG records were abnormal.
In all patients of this group characteristic EEG changes during photo-stimulation were seen. ERGs were absent, high amplitude VEPs and m-SEPs were recorded in two cases.
Our series of NCL cases cases showed very consistent findings in the group of patients with late infantile NCL. On the other hand patients with the early juvenile form of NCL have few characteristic findiags and a better NCL classification could be elaborated on the basis of a proper gene definition and gene product estimation.