Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia

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 c...

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Bibliographic Details
Published in:Neurosciences (Riyadh, Saudi Arabia) Saudi Arabia), 2020-01, Vol.25 (1), p.65-69
Main Authors: Alkhars, Fatimah Z, Bo Ali, Ahmed Y, Almohanna, Mostafa A, Almajhad, Nabil A
Format: Article
Language:English
Subjects:
Case Report
Levetiracetam
Nervous system diseases
Neurons
Seizures (Medicine)
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Summary: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.
ISSN:1319-6138
1319-6138
DOI:10.17712/nsj.2020.1.20190103