Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)

Definition

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.

References:

[1]. A Melberg, et al. Re-evaluation of the dysequilibrium syndrome. Acta Neurol Scand. 2011 Jan;123(1):28-33. [Content Brief]

[2]. Kym M Boycott, et al. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310-5. [Content Brief]

[3]. Namik Kaya, et al. Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. [Content Brief]

[4]. Onur Emre Onat, et al. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. Eur J Hum Genet. 2013 Mar;21(3):281-5. [Content Brief]

[5]. Suleyman Gulsuner, et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 2011 Dec;21(12):1995-2003. [Content Brief]

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