Central Involvement in Hereditary Motor and sensory Neuropathy: A Clinical, Electrophysiological, Genetic, Posturographic and Imaging Study

Abstract

Hereditary motor and sensory neuropathy is the most common cause giving nse to the syndrome of peroneal muscular atrophy. It is characterized by weakness and wasting of the leg and foot muscles and later the hand muscles. Despite being a peripheral nerve disorder, yet it was found that some cases may show manifestations denoting involvement of the CNS, in the fonn ofbalance problems, cranial nerve involvement, mental or behavioral changes, etc. CNS involvement leads to more disability and hence necessitates a more comprehensive rehabilitation program. This work aimed at studying the CNS involvement in patients with HMSN using clinical, electrophysiological, genetic, posturographic and imaging techniques.

Twenty five patients with hereditary motor and sensory neuropathy as well as 15 healthy control were included in this study. The studied patients were subjected to a detailed clinical examination and electrophysiological evaluation for peripheral as well as central nervous system. In addition, genetic study via pedigree analysis as well as karyotyping were carried out. Posturographic evaluation and MRl study for the brain and brainstem were also performed.

Peripheral electrophysiological study revealed that sixteen patients (64%)

had demyelinating type of HMSN, whereas 9 patients (36%) had axonopathy.