Posterior column ataxia with retinitis pigmentosa
Alternate names
PCARP; AXPC1
Defnition
Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system.
Cause
- 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.
Inheritance
- 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
Diagnosis
Treatment
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.
NIH genetic and rare disease info
Posterior column ataxia with retinitis pigmentosa is a rare disease.
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Resources
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Contributors: Deepika vegiraju
