DISEASE: Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
Entry
H01204 Disease
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
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
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.
