Abstract
We report an English kindred affected across 4 generations with a hereditary neuropathy associated with debilitating neuropathic pain as the main clinical feature. The principal finding on clinical examination was sensory loss, and there was variable motor dysfunction. Electrophysiological studies revealed mild features of demyelination with median conduction velocity in the intermediate range. There was an autosomal-dominant pattern of inheritance, and genetic testing revealed a novel heterozygous Trp101X mutation in exon 3 coding for a portion of the extracellular domain of myelin protein zero. This is predicted to lead to premature termination of translation. Myelin protein zero is a key structural component of compact myelin, and over 100 mutations in this protein have been reported, which can give rise to neuropathies with either axonal, demyelinating, or intermediate features encompassing a wide range of severity. Chronic pain is an increasingly recognised sequela of certain hereditary neuropathies and may be musculoskeletal or neuropathic in origin. In this kindred, the neuropathy was relatively mild in severity, however, neuropathic pain was an important and disabling outcome.
Highlights
Certain hereditary neuropathies have a strong association with neuropathic pain
A large number of different Myelin protein zero (MPZ) mutations have been reported in association with Charcot-Marie-Tooth disease (CMT) and can include axonal, demyelinating, or intermediate forms of CMT, with differing levels of severity [29]
We report a kindred with a novel mutation in the MPZ gene, which results in a mild form of CMT disease, but debilitating neuropathic pain
Summary
Certain hereditary neuropathies have a strong association with neuropathic pain. Such neuropathies demonstrate sensory involvement and, injury to dorsal root ganglion neurons with unmyelinated axons. A large number of different MPZ mutations have been reported in association with CMT and can include axonal, demyelinating, or intermediate forms of CMT, with differing levels of severity [29]. We describe a multigenerational English kindred in whom the presenting feature was neuropathic pain with mild or absent motor dysfunction. This was found to be due to an intermediate form of CMT as a consequence of a novel mutation in the MPZ gene
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