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Posterior column ataxia-retinitis pigmentosa syndrome
Disease definition
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
ORPHA:88628
Classification level: DisorderSummary
Epidemiology
Around 20 cases have been described in the last 50 years.
Clinical description
Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present.
Etiology
The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31).
Genetic counseling
Transmission is autosomal recessive or pseudodominant.
Prognosis
The disease evolves progressively, in some cases leading to a total loss of walking ability and vision after 10 to 30 years of progression.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)
Detailed information
General public
- Article for general public
- English (2021, pdf) - ERN-RND
Guidelines
- Clinical practice guidelines
- Deutsch (2019, pdf) - ERN-RND
- English (2019, pdf) - ERN-RND
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews
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produced/endorsed by FSMR(s)Additional information