| H01204 | |
| H number | H01204 |
| Name | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) |
| Description | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients with CAMRQs have a severe disturbance of posture and balance, strabismus, muscular hypotonia during childhood and they have a delayed ability to walk independently. The disease is also characterized by perceptual difficulties and in most cases mild mental retardation. Four subtypes have been mapped so far. |
| Category | Nervous system disease |
| Network | - |
| Gene | (CAMRQ1) VLDLR [HSA:7436] [KO:K20053] (CAMRQ2) WDR81 [HSA:124997] [KO:K17601] (CAMRQ3) CA8 [HSA:767] [KO:K01672] (CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A03.1Y ICD-10: G11.8 MeSH: C535731 C567656 C567690 OMIM: 224050 610185 613227 615268 |
| Reference | PMID:21812104 AUTHORS Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M TITLE Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. JOURNAL Am J Med Genet B Neuropsychiatr Genet 156B:826-34 (2011) DOI:10.1002/ajmg.b.31227 PMID:20199520 AUTHORS Melberg A, Orlen H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N TITLE Re-evaluation of the dysequilibrium syndrome. JOURNAL Acta Neurol Scand 123:28-33 (2011) DOI:10.1111/j.1600-0404.2010.01335.x PMID:19332571 AUTHORS Boycott KM, Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS TITLE Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). JOURNAL J Child Neurol 24:1310-5 (2009) DOI:10.1177/0883073809332696 PMID:21885617 AUTHORS Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T TITLE Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. JOURNAL Genome Res 21:1995-2003 (2011) DOI:10.1101/gr.126110.111 PMID:22892528 AUTHORS Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T TITLE Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. JOURNAL Eur J Hum Genet 21:281-5 (2013) DOI:10.1038/ejhg.2012.170 |