viernes, 23 de agosto de 2013

Late-infantile neuronal ceroid lipofuscinosis - Genetics Home Reference

Late-infantile neuronal ceroid lipofuscinosis - Genetics Home Reference

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Genetics Home Reference: your guide to understanding genetic conditions

Late-infantile neuronal ceroid lipofuscinosis

Reviewed August 2013

What is late-infantile neuronal ceroid lipofuscinosis?

Late-infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment. Late-infantile NCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.
Late-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.
Read more about infantile neuronal ceroid lipofuscinosis.

How common is late-infantile neuronal ceroid lipofuscinosis?

The prevalence of late-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 late-infantile neuronal ceroid lipofuscinosis?

Mutations in the TPP1 gene cause most cases of late-infantile NCL. Mutations in the CLN5, CLN6, CLN8, MFSD8, and PPT1 genes each account for a small percentage of cases.
The TPP1 gene produces an enzyme called tripeptidyl peptidase 1. This enzyme is found in cell structures called lysosomes, which digest and recycle different types of molecules. Tripeptidyl peptidase 1 breaks down protein fragments, known as peptides, into their individual building blocks (amino acids).
The proteins produced from the other genes involved in this condition are active either in lysosomes or in another cell compartment called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Within these cell structures, the proteins largely play roles in the breakdown of other proteins or substances.
Mutations in the TPP1, CLN5, CLN6, CLN8, MFSD8, or PPT1 gene usually reduce the production or activity of the particular protein or enzyme made from the gene. In many cases, a reduction in functional protein or enzyme results in incomplete breakdown of certain proteins and other materials. These materials accumulate in the lysosome forming fatty substances called lipopigments. In some cases, it is unclear what causes the buildup of lipopigments. In late-infantile NCL, these accumulations occur in cells throughout the body, but neurons seem particularly vulnerable to damage caused by lipopigments and a decrease in specific protein function. The progressive death of cells in the brain and other tissues leads to the signs and symptoms of late-infantile NCL.
Read more about the CLN5, CLN6, CLN8, MFSD8, PPT1, and TPP1 genes.

How do people inherit late-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 late-infantile neuronal ceroid lipofuscinosis?

These resources address the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis and may include treatment providers.
You might also find information on the diagnosis or management of late-infantile neuronal ceroid lipofuscinosis in Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

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

You may find the following resources about late-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 late-infantile neuronal ceroid lipofuscinosis?

  • Jansky-Bielschowsky disease
  • late-infantile Batten disease
  • neuronal ceroid lipofuscinosis, late-infantile
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

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

Where can I find general information about genetic conditions?

What glossary definitions help with understanding late-infantile neuronal ceroid lipofuscinosis?

acids ; ataxia ; autosomal ; autosomal recessive ; cell ; ceroid ; endoplasmic reticulum ; enzyme ; gene ; lysosome ; motor ; myoclonus ; nervous system ; prevalence ; protein ; recessive ; regression
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (3 links)

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? in the Handbook.

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