Casting a wide net to find the molar tooth: A study on Joubert syndrome

Joubert syndrome is a genetically heterogeneous group of congenital ataxias that share a distinctive cerebellar and hindbrain malformation referred to in the literature as the molar tooth sign.1,2 Based largely on unpublished data, the prevalence of Joubert syndrome is estimated as 1:80,000 to 500,000.3,4 In this issue of Neurology®, Nuovo et al.5 present the first population-based estimate of age and sex prevalence of Joubert syndrome in Italy. The overall prevalence was 0.47 per 100,000 population, while in children 0 to 19 years of age, the prevalence was 1.7 per 100,000, 2- to 10-fold higher than prior estimates. To achieve these more accurate results, the authors created a nationwide network of centers with expertise in Joubert syndrome that partnered with a disease-specific nonprofit organization dedicated to congenital ataxias. Through this collaboration, the network identified 284 patients with Joubert syndrome based on clinical and neuroradiologic findings. Next-generation sequencing confirmed a genetic cause in 60% of individuals tested, consistent with prior publications examining the genetics of Joubert syndrome.6

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