Ceroid Lipofuscinosis, Neuronal, 3

Alternative Names

  • CLN3
  • Neuronal Ceroid Lipofuscinosis, Juvenile
  • JNCL
  • Batten Disease
  • Vogt-Spielmeyer Disease
  • Spielmeyer-Sjogren Disease

Associated Genes

CLN3 Gene
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

204200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p11.2

Description

The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited, progressive neurodegenerative diseases of childhood. They are characterized by a combination of visual impairment, cerebellar ataxia, and signs and symptoms of diffuse telencephalic involvement, such as seizures, behavioral disturbances, and cognitive deterioration. Juvenile neuronal ceroid lipofuscinoses (JNCLs), also known as Batten disease, is an autosomal recessive heterogeneous group of neuronal ceroid lipofuscinoses, typically characterized by onset at early school age between the ages of four and 10 years with vision loss due to retinopathy, mental and motor deterioration, seizures, and early death. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
204200.1.1LebanonMaleNoNo Visual impairment ; Myoclonus ; Cerebe...NM_000086.2:c.461-280_677+382delHeterozygousAutosomal, RecessiveBoustany et al, 2008
204200.2.01LebanonMaleYesYes Retinal degeneration ; Esotropia ; Con...NM_000086.2:c.597C>AHomozygousAutosomal, RecessiveSarpong et al. 2009
204200.2.02LebanonMaleYesYes Retinal degeneration ; Esotropia ; C...NM_000086.2:c.597C>AHomozygousAutosomal, RecessiveSarpong et al. 2009 Brother of 204200.2....
204200.2.03LebanonMaleYesYes Retinal degeneration ; Esotropia ; ...NM_000086.2:c.597C>AHomozygousAutosomal, RecessiveSarpong et al. 2009 Brother of 204200.2....
204200.2.04LebanonMaleYesYes Retinal degeneration ; Esotropia ; ...NM_000086.2:c.597C>AHomozygousAutosomal, RecessiveSarpong et al. 2009 Brother of 204200.2....
204200.2.05LebanonFemaleYesYes Retinal degeneration ; Esotropia ; ...NM_000086.2:c.597C>AHomozygousAutosomal, RecessiveSarpong et al. 2009 Sister of 204200.2.0...
204200.3.1MoroccoMaleNoYes Visual loss; Retinal degeneration; Sei...CLN3, 6-KB DELHomozygousAutosomal, RecessiveTaschner et al. 1995 Large 6 kb deletion

Other Reports

Saudi Arabia

Moammar et al, 2010, reviewed 165530 Saudi infants born between 1983 and 2008 in the Eastern province of Saudi Arabia, of whom a total of 248 newborns were diagnosed with 55 inborn errors of metabolism (IEM). Lysosomal storage disorders were the most diagnosed category of IEM in this cohort (74 out of 248 cases, 30%). Among them, 9 cases from 5 families were found to have NCL-Juvenile type, with an estimated incidence of 5 per 100,000 live births.

United Arab Emirates

Al-Jasmi et al, 2013, studied the prevalence of lysosomal storage diseases (LSDs) in the UAE. Two Emirati patients with Batten disease were identified in this study. They suffered from novel homozygous deletions of the exon 3, introns 6 and 8, and exons 11, 14 and 15 in the CLN3 gene. 

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