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Genetics Home Reference: your guide to understanding genetic conditions
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Juvenile Batten disease

Reviewed September 2013

What is juvenile Batten disease?

Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizures.

Vision impairment is often the first noticeable sign of juvenile Batten disease, beginning between the ages of 4 and 8 years. Vision loss tends to progress rapidly, eventually resulting in blindness.

After vision impairment has begun, children with juvenile Batten disease experience the loss of previously acquired skills (developmental regression), usually beginning with the ability to speak in complete sentences. Affected children also have difficulty learning new information. In addition to the intellectual decline, affected children lose motor skills such as the ability to walk or sit. They also develop movement abnormalities that include rigidity or stiffness, slow or diminished movements (hypokinesia), and stooped posture. Affected children may have recurrent seizures (epilepsy), heart problems, behavioral problems, difficulty sleeping, and problems with attention that begin in mid- to late childhood. Most people with juvenile Batten disease live into their twenties or thirties.

Juvenile Batten disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). These disorders all 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. Some people refer to the entire group of NCLs as Batten disease, while others limit that designation to the juvenile form of the disorder.

How common is juvenile Batten disease?

Juvenile Batten disease is the most common type of NCL, but its exact prevalence 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 juvenile Batten disease?

Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown.

It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. These mutations somehow disrupt the function of cellular structures called lysosomes. Lysosomes are compartments in the cell that normally digest and recycle different types of molecules. Lysosome malfunction leads to a buildup of fatty substances called lipopigments within these cell structures. These accumulations occur in cells throughout the body, but neurons in the brain seem to be particularly vulnerable to the damage caused by lipopigments. The progressive death of cells, especially in the brain, leads to vision loss, seizures, and intellectual decline in people with juvenile Batten disease.

A small percentage of cases of juvenile Batten disease are caused by mutations in other genes. Many of these genes are involved in lysosomal function, and when mutated, can cause this or other forms of NCL.

Related Gene(s)

Changes in these genes are associated with juvenile Batten disease.

  • ATP13A2
  • CLN3
  • CLN5
  • PPT1
  • TPP1

How do people inherit juvenile Batten disease?

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 juvenile Batten disease?

These resources address the diagnosis or management of juvenile Batten disease and may include treatment providers.

  • Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center (https://www.urmc.rochester.edu/neurology/batten-disease-center/)
  • Batten Disease Support and Research Association: Centers of Excellence (http://bdsra.org/centers-of-excellence/)
  • Gene Review: Neuronal Ceroid-Lipofuscinoses (http://www.ncbi.nlm.nih.gov/books/NBK1428)
  • Genetic Testing Registry: Juvenile neuronal ceroid lipofuscinosis (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0751383)
  • NYU Langone Medical Center (http://www.med.nyu.edu/content?ChunkIID=23620)

You might also find information on the diagnosis or management of juvenile Batten disease in Educational resources (http://ghr.nlm.nih.gov/condition/juvenile-batten-disease/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/juvenile-batten-disease/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 juvenile Batten disease?

You may find the following resources about juvenile Batten disease 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 juvenile Batten disease?

  • Batten-Mayou disease
  • Batten-Spielmeyer-Vogt disease
  • CLN3-related neuronal ceroid-lipofuscinosis
  • Juvenile cerebroretinal degeneration
  • juvenile neuronal ceroid lipofuscinosis
  • Spielmeyer-Vogt 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 juvenile Batten disease?

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

What glossary definitions help with understanding juvenile Batten disease?

autosomal ; autosomal recessive ; cell ; ceroid ; disability ; epilepsy ; gene ; hypokinesia ; inherited ; juvenile ; lipofuscin ; lysosome ; motor ; nervous system ; prevalence ; protein ; recessive ; regression ; sign

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

References

  • Adams HR, Beck CA, Levy E, Jordan R, Kwon JM, Marshall FJ, Vierhile A, Augustine EF, de Blieck EA, Pearce DA, Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Dev Med Child Neurol. 2010 Jul;52(7):637-43. doi: 10.1111/j.1469-8749.2010.03628.x. Epub 2010 Feb 19. Erratum in: Dev Med Child Neurol. 2010 Oct;52(10):890. (http://www.ncbi.nlm.nih.gov/pubmed/20187884?dopt=Abstract)
  • Gene Review: Neuronal Ceroid-Lipofuscinoses (http://www.ncbi.nlm.nih.gov/books/NBK1428)
  • 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)
  • Kohlschütter A, Schulz A. Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev. 2009 Aug;31(7):499-502. doi: 10.1016/j.braindev.2008.12.008. Epub 2009 Feb 4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19195801?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)
  • Marshall FJ, de Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 Jul 26;65(2):275-9. (http://www.ncbi.nlm.nih.gov/pubmed/16043799?dopt=Abstract)
  • Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi: 10.1007/s10545-011-9323-7. Epub 2011 Apr 16. (http://www.ncbi.nlm.nih.gov/pubmed/21499717?dopt=Abstract)
  • Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. Curr Mol Med. 2007 Sep;7(6):603-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17896996?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: September 2013
Published: January 27, 2015