The Roussy-Lévy family: from the original description to the gene.

@article{PlantBordeneuve1999TheRF,
  title={The Roussy-L{\'e}vy family: from the original description to the gene.},
  author={Violaine Plant{\'e}-Bordeneuve and Anne Guiochon-Mantel and Catherine Lacroix and Jean Lapresle and G{\'e}rard Said},
  journal={Annals of neurology},
  year={1999},
  volume={46 5},
  pages={770-3}
}
In 1926, Roussy and Lévy described a large family whose members manifested an early onset dominantly inherited gait ataxia, pes cavus, and areflexia, which was eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss. Slow nerve conduction and demyelination of nerve fibers with onion bulb formations in nerve biopsy specimens led to the Roussy-Lévy syndrome (RLS) being considered a variant of demyelinating Charcot-Marie-Tooth disease (CMT-1). In the present… CONTINUE READING
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