Posterior column ataxia-retinitis pigmentosa syndrome
Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive situation attributed to mutation of a gene firstly dubbed AXPC1 which was once recognized as a mutation within the FLCVR1 gene. In most cases uncommon, a Pennsylvania Mennonite variant has been estimated to have a inhabitants allele incidence with regards to 1% because of founder results.
The syndrome was once described having childhood-onset signs with sensory neuropathy characterised through proprioceptive loss with retinitis pigmentosa presenting with concentric sight view loss. By means of maturity sufferers have been blind with ataxia.
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