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Autosomal dominant burning feet syndrome
F Stögbauer1, P Young, G Kuhlenbäumer
1Department of Neurology, University of Münster, Germany. stogbau@uni-muenster.de
Journal of Neurology, Neurosurgery, and Psychiatry
|June 17, 1999
Summary
Familial burning feet syndrome, an inherited neurological disorder, is distinct from hereditary sensory and autonomic neuropathy type I. Genetic studies confirm it represents a unique genetic condition affecting nerve fibers.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Familial burning feet syndrome (FBFS) inherited as an autosomal dominant trait has been reported in a single family.
- FBFS was previously hypothesized to be a variant of hereditary sensory and autonomic neuropathy type I (HSAN I) due to associated sensory neuropathy.
Purpose of the Study:
- To investigate the genetic basis of autosomal dominant FBFS in a large German family.
- To determine if FBFS is allelic to known neuropathies like HSAN I or Charcot-Marie-Tooth disease type 2B (CMT 2B).
Main Methods:
- Clinical examinations of affected individuals.
- Histopathological analysis of nerve biopsies.
- Molecular genetic studies including linkage analysis to specific chromosomal loci.
Main Results:
- The studied FBFS presented with a neuropathy primarily affecting small unmyelinated nerve fibers.
- Linkage analysis excluded the HSAN I locus (chromosome 9q22) and the CMT 2B locus (chromosome 3q13-q22).
Conclusions:
- Autosomal dominant familial burning feet syndrome is genetically distinct from HSAN I and CMT 2B.
- FBFS represents a novel genetic neurological disorder.