NEFH and neuropathy: 32–34 In all families, affected family members had an age of onset of symptoms in early to mid-adulthood, and a proportion displayed a non-length-dependent neuropathy with significant chronic denervation changes. Furthermore, all three families harboured heterozygous frameshift NEFH variants which shifted the reading frame to the same alternate one described in this study, further strengthening the association between this atypical phenotype and unique genotype.