Genetic Linkage Evidence for Heterogeneity in Charcot-Marie-Tooth
Neuropathy (HMSN type I)
TD Bird,J Ott, ER Giblett, PF Chance, SM Sumi,GH Kraft
Annals of Neurology 14(6), 679-84 (1983 Dec)
Abstract
A genetic linkage study performed on a large family with autosomal
dominant Charcot-Marie-Tooth neuropathy (HMSN type I) showed
affected family members to have slow motor nerve conduction
velocities, hypoactive tendon reflexes, and distal muscle weakness
and atrophy. Results excluded close linkage of the neuropathy in
this family to the Duffy blood group locus on chromosome 1. Previous
studies in other families have shown positive linkage of HMSN type I
to the Duffy locus. The present results provide support for the
concept of genetic heterogeneity in HMSN type I. Comparison of this
new family with the previous families showing linkage to Duffy
reveals that the hereditary neuropathy not linked to the Duffy locus
may have less severe slowing of motor nerve conduction velocities
and less prominent onion bulb change evident on sural nerve biopsy.
