Posterior column ataxia-retinitis pigmentosa syndrome – Wikipedia

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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[1][2]. 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.
[3]

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.[4]

  1. ^
    Berciano J, Polo JM (December 1998). “Autosomal recessive posterior column ataxia and retinitis pigmentosa”. Neurology. 51 (6): 1772–3. doi:10.1212/wnl.51.6.1772-a. PMID 9855554.
  2. ^ Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ (November 2010). “Mutations in FLVCR1 motive posterior column ataxia and retinitis pigmentosa”. American Magazine of Human Genetics. 87 (5): 643–54. doi:10.1016/j.ajhg.2010.10.013. PMC 2978959. PMID 21070897.
  3. ^ “On-line Mendelian Inheritance in Guy:FLCVR1”. omim.org.
  4. ^ Higgins JJ, Morton DH, Patronas N, Nee LE (December 1997). “An autosomal recessive dysfunction with posterior column ataxia and retinitis pigmentosa”. Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49.6.1717. PMID 9409377.


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