A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients'

摘要

Brown-Vialetto-Van Laere Syndrome (BWL) is a rare childhood neurological disorder characterized by progressive ponto-bulbar palsy associated with sensorineural deafness and respiratory difficulties. The syndrome was first described by Charles Brown in 1894 in a 15-year-old German boy, and then further reported by Vialetto in 1936 and Van Laere in 1966. The majority of cases are apparently sporadic in nature, consistent with the autosomal recessive mode of inheritance noted in several families, although autosomal dominant inheritance has been observed in one kindred. Patients with BWL have overlapping clinical features with other childhood motor neuron disorders such as Madras Motor Neuron Disease, Boltshauser syndrome, Nathalie syndrome and Fazio-Londe syndrome. It is very likely that these disorders are allelic with the disease genes associated with BWL.