Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Neuropathy, ataxia, and retinitis pigmentosa

(often shortened to NARP)
Reviewed November 2006

What is NARP?

Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Many affected individuals also have vision loss caused by changes in the light-sensitive tissue that lines the back of the eye (the retina). In some cases, the vision loss results from a condition called retinitis pigmentosa. This eye disease causes the light-sensing cells of the retina gradually to deteriorate.

Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals.

How common is NARP?

The prevalence of NARP is unknown. This disorder is probably less common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people.

What are the genetic changes related to NARP?

Neuropathy, ataxia, and retinitis pigmentosa, is a condition related to changes in mitochondrial DNA.

Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa.

The MT-ATP6 gene is contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA).

The MT-ATP6 gene provides instructions for making a protein that is essential for normal mitochondrial function. Through a series of chemical reactions, mitochondria use oxygen and simple sugars to create adenosine triphosphate (ATP), the cell's main energy source. The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production. Mutations in the MT-ATP6 gene alter the structure or function of ATP synthase, reducing the ability of mitochondria to make ATP. It remains unclear how this disruption in mitochondrial energy production leads to muscle weakness, vision loss, and the other specific features of NARP.

Related Gene(s)

Changes in this gene are associated with neuropathy, ataxia, and retinitis pigmentosa.

  • MT-ATP6

How do people inherit NARP?

This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.

Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. The severity of some mitochondrial disorders is associated with the percentage of mitochondria in each cell that has a particular genetic change. Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. When this mutation is present in a higher percentage of a person's mitochondria—greater than 90 percent to 95 percent—it causes a more severe condition known as maternally inherited Leigh syndrome. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features instead of two distinct syndromes.

Where can I find information about diagnosis or management of NARP?

These resources address the diagnosis or management of NARP and may include treatment providers.

  • Gene Review: Mitochondrial Disorders Overview (http://www.ncbi.nlm.nih.gov/books/NBK1224)
  • Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP (http://www.ncbi.nlm.nih.gov/books/NBK1173)
  • Genetic Testing Registry: Neuropathy ataxia retinitis pigmentosa syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838914)
  • MedlinePlus Encyclopedia: Retinitis pigmentosa (http://www.nlm.nih.gov/medlineplus/ency/article/001029.htm)

You might also find information on the diagnosis or management of NARP in Educational resources (http://www.ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa/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 NARP?

You may find the following resources about NARP 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 NARP?

  • NARP syndrome
  • neurogenic muscle weakness, ataxia, and retinitis pigmentosa
  • neuropathy, ataxia, and retinitis pigmentos

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 NARP?

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

What glossary definitions help with understanding NARP?

adenosine triphosphate ; ataxia ; ATP ; cardiac ; cell ; dementia ; disabilities ; DNA ; egg ; embryo ; enzyme ; gene ; inheritance ; inherited ; maternal ; maternal inheritance ; mitochondria ; mutation ; nervous system ; neuropathy ; nucleus ; oxidative phosphorylation ; oxygen ; pattern of inheritance ; phosphorylation ; prevalence ; protein ; retina ; sensory neuropathy ; spectrum ; sperm ; subunit ; syndrome ; tissue

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

References

  • Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol. 1999 Feb;83(2):190-3. (http://www.ncbi.nlm.nih.gov/pubmed/10396197?dopt=Abstract)
  • Gene Review: Mitochondrial DNA-Associated Leigh Syndrome and NARP (http://www.ncbi.nlm.nih.gov/books/NBK1173)
  • Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol. 2006 Jun;111(6):610-6. Epub 2006 Mar 9. (http://www.ncbi.nlm.nih.gov/pubmed/16525806?dopt=Abstract)
  • Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. (http://www.ncbi.nlm.nih.gov/pubmed/9221962?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: November 2006
Published: December 16, 2014