Andermann syndrome

Albert L Larbrisseau MD (Dr. Larbrisseau of the University of Montreal and Hopital Ste-Justine has no relevant financial relationships to disclose.)
Harvey B Sarnat MD FRCPC MS, editor. (Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.)
Originally released July 17, 1995; last updated July 24, 2016; expires July 24, 2019

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.

Key points

 

• 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.

Historical note and terminology

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 (Andermann et al 1972; Andermann 1977).

Image: Dr. Frederick Andermann
The syndrome was defined more extensively in subsequent years (Andermann 1981; Andermann and Andermann 1994b). The eponym was first used to refer to this entity by Larbrisseau and colleagues (Larbrisseau et al 1984). 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" (Andermann et al 1972; Andermann et al 1994a; De Braekeleer et al 1993; Heyer 1999).

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