PT  - JOURNAL ARTICLE
AU  - Alkhars, Fatimah Z.
AU  - Bo Ali, Ahmed Y.
AU  - Almohanna, Mostafa A.
AU  - Almajhad, Nabil A.
TI  - Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia
AID  - 10.17712/nsj.2020.1.20190103
DP  - 2020 Jan 01
TA  - Neurosciences Journal
PG  - 65--69
VI  - 25
IP  - 1
4099  - http://nsj.org.sa/content/25/1/65.short
4100  - http://nsj.org.sa/content/25/1/65.full
SO  - Neurosciences (Riyadh)2020 Jan 01; 25
AB  - Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative diseases that presents in childhood and are characterized by seizures and progressive neurological deterioration, which results in dementia, ataxia, visual failure, and various forms of abnormal movement. The most common form of neuronal ceroid lipofuscinoses is late infantile (LI-NCL), in association with the genes CLN2, CLN5, CLN6, and CLN8. We report the cases of neuronal ceroid lipofuscinoses type 8 in 3 patients from 2 unrelated families, which was confirmed by molecular testing in 2 of them. Multiple spontaneous abortions, early death, and early onset of motor disability were observed in our cases, reflecting a possible association of NCL 8 with other unrecognized neurodegenerative diseases. Our results expand the genotypic/phenotypic background of variant late Infantile-NCL in Arabic ethnicity.