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

Neuromuscul Disord. 2001 Jan;11(1):27-34. doi: 10.1016/s0960-8966(00)00162-0.

Abstract

We report the clinical and genetic linkage analysis of a large Tunisian family with thirteen affected patients suffering from Charcot-Marie-Tooth disease with pyramidal involvement. The inheritance is autosomal recessive. The clinical phenotype is consistent in all patients. It is characterized by onset during the first decade, a progressive course and distal atrophy in all four limbs, associated with a mild pyramidal syndrome. Nerve biopsy in two patients showed severe axonal neuropathy. Genetic linkage excluded known loci of different genetic forms of Charcot-Marie-Tooth disease, familial spastic 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Axons / pathology*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Genes, Recessive / genetics*
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Peripheral Nervous System Diseases / genetics*
  • Peripheral Nervous System Diseases / physiopathology
  • Pyramidal Tracts / physiopathology
  • Tunisia

Substances

  • Genetic Markers