Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia

Mohammad A Al-Muhaizea; Zuhair N Al-Hassnan; Aziza Chedrawi

doi:10.1016/j.pediatrneurol.2009.01.012

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia

Pediatr Neurol. 2009 Jul;41(1):74-6. doi: 10.1016/j.pediatrneurol.2009.01.012.

Authors

Mohammad A Al-Muhaizea¹, Zuhair N Al-Hassnan, Aziza Chedrawi

Affiliation

¹ Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mmuhaizea@kfshrc.edu.sa

PMID: 19520283
DOI: 10.1016/j.pediatrneurol.2009.01.012

Abstract

Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.

Publication types

Case Reports
Review

MeSH terms

Child
Child, Preschool
Family
Female
Humans
Male
Membrane Proteins / genetics*
Mutation
Neuronal Ceroid-Lipofuscinoses / epidemiology*
Neuronal Ceroid-Lipofuscinoses / genetics*
Saudi Arabia / epidemiology
Sequence Analysis, DNA

Substances

CLN6 protein, human
Membrane Proteins