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Genetics Home Reference: your guide to understanding genetic conditions
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Infantile neuronal ceroid lipofuscinosis

Reviewed July 2013

What is infantile neuronal ceroid lipofuscinosis?

Infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. Beginning in infancy, children with this condition have intellectual and motor disability, rarely developing the ability to speak or walk. Affected children often have muscle twitches (myoclonus), recurrent seizures (epilepsy), or vision impairment. An unusually small head (microcephaly) and progressive loss of nerve cells in the brain are also characteristic features of this disorder. Children with infantile NCL usually do not survive past childhood.

Infantile NCL is one of a group of NCLs (collectively called Batten disease) that affect the nervous system and typically cause progressive problems with vision, movement, and thinking ability. The different types of NCLs are distinguished by the age at which signs and symptoms first appear.

How common is infantile neuronal ceroid lipofuscinosis?

The incidence of infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.

What genes are related to infantile neuronal ceroid lipofuscinosis?

Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from proteins, which probably helps break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions.

PPT1 gene mutations that cause infantile NCL decrease the production or function of palmitoyl-protein thioesterase 1. A shortage of functional enzyme impairs the removal of fatty acids from proteins. In the lysosomes, these fats and proteins accumulate as fatty substances called lipopigments. These accumulations occur in cells throughout the body, but nerve cells in the brain seem to be particularly vulnerable to the damage caused by buildup of lipopigments and the loss of enzyme function. The progressive death of cells, especially in the brain, leads to the signs and symptoms of infantile NCL.

Related Gene(s)

Changes in these genes are associated with infantile neuronal ceroid lipofuscinosis.

  • CLN3
  • CLN5
  • PPT1

How do people inherit infantile neuronal ceroid lipofuscinosis?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of infantile neuronal ceroid lipofuscinosis?

These resources address the diagnosis or management of infantile neuronal ceroid lipofuscinosis and may include treatment providers.

  • Genetic Testing Registry: Ceroid lipofuscinosis neuronal 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1850451)
  • Genetic Testing Registry: Infantile neuronal ceroid lipofuscinosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268281)

You might also find information on the diagnosis or management of infantile neuronal ceroid lipofuscinosis in Educational resources (http://www.ghr.nlm.nih.gov/condition/infantile-neuronal-ceroid-lipofuscinosis/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/infantile-neuronal-ceroid-lipofuscinosis/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about infantile neuronal ceroid lipofuscinosis?

You may find the following resources about infantile neuronal ceroid lipofuscinosis helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for infantile neuronal ceroid lipofuscinosis?

  • CLN1
  • infantile Batten disease
  • neuronal ceroid lipofuscinosis 1
  • neuronal ceroid lipofuscinosis, infantile
  • Santavuori-Haltia disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about infantile neuronal ceroid lipofuscinosis?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding infantile neuronal ceroid lipofuscinosis?

acids ; autosomal ; autosomal recessive ; cell ; ceroid ; disability ; enzyme ; epilepsy ; fatty acids ; gene ; incidence ; inherited ; microcephaly ; motor ; myoclonus ; nervous system ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi: 10.1007/s00018-010-0468-6. Epub 2010 Aug 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20680390?dopt=Abstract)
  • Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009 Apr;1793(4):697-709. doi: 10.1016/j.bbamcr.2008.11.004. Epub 2008 Nov 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19084560?dopt=Abstract)
  • Kim SJ, Zhang Z, Sarkar C, Tsai PC, Lee YC, Dye L, Mukherjee AB. Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice. J Clin Invest. 2008 Sep;118(9):3075-86. doi: 10.1172/JCI33482. (http://www.ncbi.nlm.nih.gov/pubmed/18704195?dopt=Abstract)
  • Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21990111?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2013
Published: September 15, 2014