Biology:Posterior column ataxia-retinitis pigmentosa syndrome
From HandWiki
Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene] originally dubbed AXPC1 which was identified as a mutation in the FLCVR1 gene.[1][2] Generally rare, a Pennsylvania Mennonite variant has been estimated to have a population allele prevalence close to 1% due to founder effects.[3]
Clinical phenotype
The syndrome was described having childhood-onset symptoms with sensory neuropathy characterized by proprioceptive loss with retinitis pigmentosa presenting with concentric visual field loss. By adulthood patients were blind with ataxia.[4]
References
- ↑ "Autosomal recessive posterior column ataxia and retinitis pigmentosa". Neurology 51 (6): 1772–3. December 1998. doi:10.1212/wnl.51.6.1772-a. PMID 9855554.
- ↑ "Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa". American Journal of Human Genetics 87 (5): 643–54. November 2010. doi:10.1016/j.ajhg.2010.10.013. PMID 21070897.
- ↑ "Online Mendelian Inheritance in Man:FLCVR1". https://www.omim.org/entry/609144?search=flvcr1&highlight=flvcr1.
- ↑ "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology 49 (6): 1717–20. December 1997. doi:10.1212/wnl.49.6.1717. PMID 9409377.
 |  |
