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Charcot-Marie-Tooth disease: an intermediate form

1998; Elsevier BV; Volume: 8; Issue: 6 Linguagem: Inglês

10.1016/s0960-8966(98)00044-3

1873-2364

Marcello Villanova, Vincent Timmerman, Peter De Jonghe, Alessandro Malandrini, Nicola Rizzuto, Christine Van Broeckhoven, Giancarlo Guazzi, Alessandro Rossi,

Botulinum Toxin and Related Neurological Disorders

In 1985, we described a large kinship with an autosomal dominant, intermediate form of Charcot-Marie-Tooth disease (CMT) [ 6 Rossi A. Paradiso C. Cioni R. Rizzuto N. Guazzi G. Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J Neurol. 1985; 232: 91-98 Crossref PubMed Scopus (34) Google Scholar ]. This type of CMT is clinically characterized by onset in the second decade of life, when the patients experience weakness in the lower limbs, with difficulties in running and frequent muscle cramps. However, motor difficulties on exposure to cold and difficulties in walking on the heels were already present at the age of 7 years in our patients studied in 1985. From 25 to 30 years, the disease progressed slowly but steadily. In their forties, patients went through the `critical stage of the disease', when the symptoms worsened very quickly. They rapidly developed severe weakness and atrophy of distal leg and intrinsic hand muscles, steppage gait, pes cavus, areflexia and mild distal sensory loss. Later in life, the disease seemed to stabilise. It should be noted that even the elderly patients never became wheelchair-dependent. A peripheral nerve biopsy showed chronic axonal degeneration with regeneration, and secondary segmental de- and remyelination. On electron microscopy, onion bulb formations were occasionally seen. Neurophysiological studies showed that the motor nerve conduction velocities (NCV) of the median nerve were between 25 and 45 m/s. We have now performed a molecular genetic study to exclude the involvement of autosomal dominant CMT type 1 and CMT type 2 loci in the intermediate form of CMT. For the present study 20 blood samples were taken for DNA analysis. Eighteen members were affected by this type of CMT.