The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited, progressive neurodegenerative diseases of childhood. They are characterized by a combination of visual impairment, cerebellar ataxia, and signs and symptoms of diffuse telencephalic involvement, such as seizures, behavioral disturbances, and cognitive deterioration. Juvenile neuronal ceroid lipofuscinoses (JNCLs), also known as Batten disease, is an autosomal recessive heterogeneous group of neuronal ceroid lipofuscinoses, typically characterized by onset at early school age between the ages of four and 10 years with vision loss due to retinopathy, mental and motor deterioration, seizures, and early death.
Moammar et al, 2010, reviewed 165530 Saudi infants born between 1983 and 2008 in the Eastern province of Saudi Arabia, of whom a total of 248 newborns were diagnosed with 55 inborn errors of metabolism (IEM). Lysosomal storage disorders were the most diagnosed category of IEM in this cohort (74 out of 248 cases, 30%). Among them, 9 cases from 5 families were found to have NCL-Juvenile type, with an estimated incidence of 5 per 100,000 live births.
Al-Jasmi et al, 2013, studied the prevalence of lysosomal storage diseases (LSDs) in the UAE. Two Emirati patients with Batten disease were identified in this study. They suffered from novel homozygous deletions of the exon 3, introns 6 and 8, and exons 11, 14 and 15 in the CLN3 gene.