This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.Pro205Ser. The clinical manifestations of the disease in this family largely resemble those of ceroid-lipofuscinosis, neuronal 5 disease, variant late infantile that was first described in Finland and include mental decline, visual deterioration, ataxia, and epileptic seizures. This description of ceroid-lipofuscinosis, neuronal 5 disease in an Arab family adds to the clinical and molecular diversity of the variant late-infantile neuronal ceroid lipofuscinoses, which were originally reported in Europe and are increasingly recognized in other populations.
Author(s): Al-Kowari, MK (Al-Kowari, Moza K.); Hassan, S (Hassan, Sara); El-Said, MF (El-Said, Mahmoud F.); Ben-Omran, T (Ben-Omran, Tawfeg); Hedin, L (Hedin, Lars); Mole, SE (Mole, Sara E.); Badii, R (Badii, Ramin)
Source: JOURNAL OF CHILD NEUROLOGY 26(5): 625-629 MAY 2011