CMT4J, parkinsonism and a new FIG4 mutation

We read with great interest the recent article by Zimmermann and colleagues [1] describing five patients with a phenotypical continuum between Charcot-Marie-Tooth disease type 4J (CMT4J) and Yunis-Varón syndrome associated to FIG4 mutations. Three of them had parkinsonism, an uncommon associated clinical manifestation. Here we report a case with CMT4J and biallelic pathogenic mutations in FIG4 that developed an early-onset parkinsonism.