Apr. 01, 2021
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This article includes discussion of Andermann syndrome, agenesis of corpus callosum with polyneuropathy, corpus callosum agenesis with sensorimotor neuropathy, and sensorimotor polyneuropathy with or without agenesis of the corpus callosum. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
• Andermann syndrome is a unique disorder characterized by agenesis of the corpus callosum in the majority of cases, progressive sensorimotor neuropathy, and mental retardation.
• It is an autosomal recessive disorder found mostly among French Canadians originating from the Charlevoix County in the province of Quebec.
• The gene responsible for the syndrome is located on the chromosome 15q13-q15.
This unique autosomal recessive disorder, characterized by progressive sensorimotor neuropathy, mental retardation, and agenesis of the corpus callosum, was first described by Andermann and colleagues (05; 02).
The syndrome was defined more extensively in subsequent years (01; 04). The eponym was first used to refer to this entity by Larbrisseau and colleagues (19). Most cases have been found among members of the French-Canadian population, originating from the Charlevoix County, who eventually migrated to the Saguenay-Lac-Saint-Jean region in the Province of Québec. A high degree of consanguinity exists in this population. Many affected individuals have been traced to a common ancestral couple from France who married in Québec City in 1657, thus, demonstrating a "founder effect" (05; 03; 09; 17).
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