Article
Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.
Neurology - 24 May 2005
Roddier K, Thomas T, Marleau G, Gagnon A M, Dicaire M J, St-Denis A, Gosselin I, Sarrazin A M, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau G A, Brais B
Abstract excerpt
BACKGROUND: Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study of a French Canadian family led to the definition of HSAN2. OBJECTIVES: To demonstrate that the apparent higher prevalence of HSAN2 in Quebec is due to the presence of two HSN2 mutations and that carriers of different mutations appear to have a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.