{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:17:30Z","timestamp":1777803450747,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2011,3,29]],"date-time":"2011-03-29T00:00:00Z","timestamp":1301356800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.1177\/0883073810387298","type":"journal-article","created":{"date-parts":[[2011,3,30]],"date-time":"2011-03-30T00:30:47Z","timestamp":1301445047000},"page":"625-629","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population"],"prefix":"10.1177","volume":"26","author":[{"given":"Moza K.","family":"Al-Kowari","sequence":"first","affiliation":[{"name":"Molecular Genetics Laboratory, Hamad Medical Corporation, Doha, 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