Posterior column ataxia with retinitis pigmentosa
| Disorder | |
|---|---|
| OMIM #: | #609033 (Click to access OMIM database) |
| Disorder: | Posterior column ataxia with retinitis pigmentosa |
| Also known as: | PCARP AXPC1 |
| Clinical | |
| Phenotype: | Impaired proprioception, ataxia, decreased sensation in lower extremities, progressive motor loss, muscle weakness, recurrent urinary tract infections, progressive blindness, retinitis pigmentosa |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | FLVCR1 |
| Base Change: | A>G, at nucleotide 371 |
| Amino Acid Change: | gln 124 --> arg |
| 2 Old Order Mennonite | |
| Gene: | FLVCR1 |
| Base Change: | A>G, at nucleotide 361 |
| Amino Acid Change: | asn 121 --> asp |
| Last updated: | 2024-05-27 |
| References |
|---|
| Higgins JJ, Kluetzman K, Berciano J, Combarros O, Loveless JM. (2000) Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. Mov Disord May;15(3):575-8. PubMed ID: 10830426 |
| Higgins JJ, Morton DH, Loveless JM. (1999) Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Neurology Jan 1;52(1):146-50. PubMed ID: 9921862 |
| Higgins JJ, Morton DH, Patronas N, Nee LE. (1997) An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. Neurology Dec;49(6):1717-20. PubMed ID: 9409377 |
| Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK. (2018) Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. Ophthalmic Genet Dec;39(6):735-740. PubMed ID: 30444160 |
| Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases. PLoS One 7(1):e28936. PubMed ID: 22279524 |
| Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ. (2010) Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet Nov 12;87(5):643-54. PubMed ID: 21070897 |
| Yanatori I, Yasui Y, Miura K, Kishi F. (2012) Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. Blood Cells Mol Dis Jun 15;49(1):60-6. PubMed ID: 22483575 |
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