Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Alternative Names

  • CAMRQ1
  • Cerebellar Hypoplasia, VLDLR-Associated
  • Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion 1
  • Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive
  • Dysequilibrium Syndrome
  • DES
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WHO-ICD-10 version:2010

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

OMIM Number

224050

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9p24.2

Description

CAMRQ1 is an autosomal recessive genetic condition characterized by congenital onset of non-progressive cerebellar ataxia, cerebellar hypoplasia, and moderate-to-profound mental retardation. Quadrupedal locomotion has also been observed in some patients. Diagnosis is made based on clinical investigations and neuroimaging. Differential diagnosis of CAMRQ1 include Marinesco-Sjogren syndrome, which can be distinguished by elevated creatine kinase levels and progressive myopathy.

Mutations in the VLDLR (very low density lipoprotein receptor) gene are associated with CAMRQ1. VLDLR is a component of the Reelin (RELN) signalling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
224050.G.1Oman; United Arab Emir...YesYes Intellectual disability, moderate; Infa...NM_003383.5:c.2117G>THomozygousAutosomal, RecessiveAli et al. 2012; Saleh et al. 2021 Five patients from t...
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