Posterior column ataxia with retinitis pigmentosa

What causes posterior column ataxia with retinitis pigmentosa (PCARP)?

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.

Last updated on 05-01-20

How is posterior column ataxia with retinitis pigmentosa (PCARP) inherited?

PCARP is inherited in an autosomal recessive manner. 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 on 05-01-20

Name: National Ataxia Foundation 600 Highway 169 South Suite 1725
Minneapolis, MN, 55426, United States
Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: naf@ataxia.org Url: https://ataxia.org/
Name: Retina International Ausstellungsstr. 36 8005 Zurich
Switzerland
Phone: + 41 (0)44 444 10 77 Email: info@retina-international.org Url: http://www.retina-international.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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