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Article

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

Neurosciences (Riyadh, Saudi Arabia) - 1 Jan 2020

Alkhars Fatimah Z, Bo Ali Ahmed Y, Almohanna Mostafa A, Almajhad Nabil A

Abstract excerpt

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,...

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Identifiers

PMID: 31982899
DOI: 10.17712/nsj.2020.1.20190103
PMCID: PMC8015628

Genes

CLN5
CLN6
CLN8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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