CHARCOT-MARIE-TOOTH DISEASE TYPE-1 AND TYPE-2 - AN IMMUNOHISTOCHEMICAL STUDY OF MUSCLE-FIBER CYTOSKELETAL PROTEINS AND A MARKER FOR MUSCLE-FIBER REGENERATION

In 10 patients with Charcot-Marie-Tooth disease type 1 (CMT1), heredit ary motor and sensory neuropathy (HMSN) type 1, demyelinating form, an d 10 patients with CMT2, HMSN type 2, axonal form, monoclonal antibodi es directed against dystrophin, spectrin, desmin, vimentin and a myobl ast and satellite-cell related antigen, Leu-19, were applied to muscle biopsies from the anterior tibial muscle. Data from the biopsies were compared with those from 20 age- and sex-matched healthy controls. Bo th CMT1 and CMT2 patients had normal stainings for dystrophin and spec trin, indicating a normal muscle fibre cytoskeletal structure. In the CMT2 group, seven patients had increased staining for desmin in the ma jority of the atrophic fibres. In the CMT1 group, six of the patients had a normal desmin staining in normal sized and in atrophic muscle fi bres, while the remaining four patients had an increased staining for a desmin in a few atrophic muscle fibres, Seven CMT2 patients and one CMT1 patient had increased staining of vimentin in some atrophic muscl e fibres. In contrast to CMT1 patients, all CMT2 patients had an incre ased staining for Leu-19 in a majority of the atrophic muscle fibres, These immunohistochemical data support earlier findings of muscle fibr e histopathological differences in CMT1 and CMT2 patients, possible re flecting different pathophysiological mechanisms in the two disorders. Eur J Neurol 5:545-551 (C) 1998 Lippincott Williams & Wilkins.