Homozygous mutation in CWF19L1 with recessive ataxia syndrome in a Turkish child

Autosomal recessive cerebellar ataxia (ARCA) is a group of rare, genetically and clinically heterogeneous neurological disorders affecting both the peripheral and central nervous systems. They are characterized by ataxia, ophthalmoplegia, sensory/motor neuropathy, involuntary movements, seizures, cognitive impairment, skeletal abnormalities and cutaneous disorders. The overall estimated prevalence is approximately 2.2-7 per 100.000, but varies per population. In the past few years, several novel forms of ARCAs have been recognised, based on identified novel loci and genes.To date, more than 20 genes have been reported to cause ARCA, however, explaining only 40% of cases. In recent years, mutations in the CWF19L1 gene have been reported as the cause of ARCA. In the literature, a few case have been reported in association with the CWF19L1 gene.Here, we report a case of Turkish child with homozygous mutation in CWF19L1 gene, presented with gait disturbance, and speech disorder.In conclusion, ARCAs are genetically and clinically heterogeneous group of disorders. In countries where consanguineous marriage is common, the mutation in the CWF19L1 gene should be included in the differential diagnosis of ARCA.
Keywords: CWF19L1,ataxia, child