National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Posterior column ataxia with retinitis pigmentosa


Other Names:
PCARP; AXPC1
Categories:
Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa), abnormalities in the body's unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and breakdown (atrophy).[1] Other signs and symptoms may include curvature of the spine (scoliosis), an abnormal bending of the joints in the fingers (camptodactyly), and issues with the gastrointestinal system. PCARP is caused by mutations in the FLVCR1 gene and is inherited in an autosomal recessive manner.[2][3] While there is no one treatment for this condition, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

Last updated: 5/31/2017
The signs and symptoms of PCARP usually appear in early childhood, typically starting with retinitis pigmentosa, proprioceptive abnormalities, and loss of the sense of touch.[2][3] Other signs and symptoms may include:[1][2][3]
  • Intellectual disability
  • Damage to the nerves in the esophagus and difficulties swallowing (achalasia) 
  • Issues with the movement of the intestines (gastrointestinal dysmotility)
  • Loss of bladder control
  • Recurrent urinary tract infections
  • Curvature of the spine (scoliosis)
  • Abnormal bending of the joints of the fingers (camptodactyly)
  • Muscle wasting and weakness
  • Lean body habitus
Last updated: 5/31/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Impaired vibration sensation in the lower limbs
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ] 		0002166
30%-79% of people have these symptoms
Axonal degeneration 0040078
Bone spicule pigmentation of the retina 0007737
Gait ataxia
Inability to coordinate movements when walking
0002066
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Intellectual disability
Mental-retardation
Mental deficiency
Mental retardation, nonspecific
Mental retardation
[ more ] 		0001249
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ] 		0000662
Rod-cone dystrophy 0000510
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
5%-29% of people have these symptoms
Abnormal sensory nerve conduction velocity 0040132
Abnormality of the spinal cord 0002143
Areflexia
Absent tendon reflexes
0001284
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Chronic pain
Long-lasting pain
0012532
Delayed gross motor development
Delayed motor skills
0002194
Flexion contracture of finger 0012785
Gastrointestinal dysmotility 0002579
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Muscle spasm 0003394
Osteomyelitis
Bone infection
0002754
Positive Romberg sign 0002403
Scoliosis 0002650
Seizure 0001250
Truncal titubation 0030147
1%-4% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Percent of people who have these symptoms is not available through HPO
Achalasia 0002571
Ataxia 0001251
Autosomal recessive inheritance 0000007
Blindness 0000618
Broad-based gait
Wide based walk
0002136
Childhood onset
Symptoms begin in childhood
0011463
Decreased sensory nerve conduction velocity 0003448
Delayed ability to walk 0031936
Distal muscle weakness
Weakness of outermost muscles
0002460
Joint contracture of the hand 0009473
Optic atrophy 0000648
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] 		0000010
Ring scotoma 0030529
Scotoma 0000575
Sensory ataxia 0010871
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Slow progression
Signs and symptoms worsen slowly with time
0003677
Undetectable electroretinogram 0000550
Urinary incontinence
Loss of bladder control
0000020
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Last updated: 7/1/2020
PCARP is a genetic condition. Most cases of PCARP are caused by mutations in the FLVCR1 gene. Scientists believe that mutations in this gene result in deterioration of the light detecting cells in the retina of the eye and certain nerve cells in the spinal cord. There may be other genes involved in the development of this condition, as some individuals with PCARP do not have mutations in the FLVCR1 gene.[4]
Last updated: 6/1/2017
PCARP is inherited in an autosomal recessive manner.[3] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this condition.

Affected people inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier
Last updated: 6/1/2017

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Posterior column ataxia with retinitis pigmentosa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Posterior column ataxia with retinitis pigmentosa. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. Int J Neurosci. January 2015; 125(1):43-49. https://www.ncbi.nlm.nih.gov/pubmed/24628582.
  2. Posterior column ataxia-retinitis pigmentosa syndrome. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628.
  3. Kniffin CL. Posterior column ataxia-retinitis pigmentosa; AXPC1. Online Mendelian Inheritance in Man (OMIM). 6/3/2016; https://www.omim.org/entry/609033.
  4. Rajadhyaksha AM, Elemento O, Puffenberger EG, et al. Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa. Journal of Human Genetics. November 12, 2010; v.87(5):643-654. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978959/.