The P56S mutation in the VAPB gene is not due to a single founder

Background: The P56S mutation in the vesicle associated membrane protein associated protein B (VAPB) gene has been described in Brazilian families of Portuguese origin showing different phenotypes of motor neuron disorders including ALS and spinal muscular atrophy. The mutation was due to a common founder in the Brazilian families and has not been described in European populations so far. Methods: We analysed eleven patients with adult onset autosomal dominant motor neuron disease and predominant lower motor neuron involvement for mutations in the VAPB gene by gene sequencing. Haplotype analysis was performed us…