Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3

We report the clinical and genetic linkage analysis of a large Tunisian fam ily with thirteen affected patients suffering from Charcot-Marie-Tooth dise ase with pyramidal involvement. The inheritance is autosomal recessive. The clinical phenotype is consistent in all patients. It is characterized by o nset during the first decade, a progressive course and distal atrophy in al l four limbs, associated with a mild pyramidal syndrome. Nerve biopsy in tw o patients showed severe axonal neuropathy. Genetic linkage excluded known loci of different genetic forms of Charcot-Marie-Tooth disease, familial sp astic paraplegia and familial amyotrophic lateral sclerosis. A significant lod score was obtained with marker D8S286, confirming linkage to chromosome 8q21.3. The clinical syndrome observed in this family seems to correspond to a new genetic form of autosomal recessive Charcot-Marie-Tooth disease. ( C) 2001 Elsevier Science B.V. All rights reserved.