We report the first known cases of late infantile neuronal ceroid-lipofuscinosis (LINCL) in the Arab population caused by a mutation in the CLN5 gene. The clinical manifestations of the disease largely resemble those of the Finnish LINCL variant and include mental decline, visual deterioration, ataxia and epileptic seizures, although the age of onset was 3 years. Sequencing of the genes that cause vLINCL (CLN5, 6 and 8) in the probands revealed a novel homozygous c.613C>T change in exon 3 of CLN5, corresponding to a missense mutation of the conserved amino acid proline 205 to serine. This description of variant of LINCL in an Arab family further demonstrates the clinical and molecular diversity of LINCL, which have mainly been reported in European populations.

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