Variability in nerve biopsy findings in a kinship with dominantly inherited charcot‐marie‐tooth disease

Abstract

Abstract A large kinship with an autosomal hereditary‐motor‐and‐sensory‐neuropathy (HMSN) form of Charcot‐Marie‐Tooth disease (CMTD) is described. The affected members have the clinical features and reduced motor nerve conduction velocities of the hypertrophic type of CMTD, or HMSN I. Biopsies of the sural nerves of five affected members showed a large variability of demyelination and remyelination and onion bulb formation, independent of axonal atrophy and the severity of the disease. These findings are discussed in relation to recent literature.