Abstract
Sensorimotor polyneuropathy with or without agenesis of the corpus callosum (McKusick number 218000) is a disorder that has a high frequency in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of northeastern Quebec. The incidence at birth and the carrier rate were estimated, respectively, at 1/2117 liveborns and 1/23 inhabitants. Remote consanguinity was found in several polyneuropathic families while the mean kinship coefficient was 2.7 times higher in the polyneuropathic group than in control groups. The birth places of the individuals with sensorimotor polyneuropathy and their parents did not show a clustered nonuniform distribution. The genealogical reconstruction suggests that the high incidence of polyneuropathy in SLSJ is likely to be the result of a founder effect. It also suggests that a unique mutation accounts for most, if not all, of the cases of sensorimotor polyneuropathy known in this region.
Similar content being viewed by others
References
Andermann E, Andermann F, Mélançon D (1971) Three familial midline malformation syndromes of the central nervous system. In: Grouchy J de (ed) Proceedings of the 4 International Congress of Human Genetics. Excerpta Medica International Congress Series, Amsterdam, pp 15
Andermann E, Andermann F, Joubert M, Mélançon D, Karpati G, Carpenter S (1975) Three familial midline malformation syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of the cerebellar vermis; and atrophy of the cerebellar vermis. Birth Defects 11:269–293
Andermann E, Andermann F, Bergeron D, Langevin P, Nagy R, Bergeron J (1979) Familial agenesis of the corpus callosum with sensorimotor neuropathy: genetic and epidemiological studies of over 170 patients. Can J Neurol Sci 6:400
Andermann F, Andermann E, Joubert M, Karpati G, Carpenter S, Mélançon D (1972) Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraparesis. Trans Am Neurol Assoc 97:242–244
Cao A, Cianchetti C, Signorini E, Loi M, Sanna G, De Virgiliis S (1977) Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and mental retardation in three siblings. Clin Genet 12:290–296
Castro Gago M, Rodriguez E, Ugarte J, Diaz Cardama I, Alonso A, Pena J (1982) Agenesia hereditaria del cuerpo calloso: una nueva forma. Rev Esp Pediatr 38:349–353
Daigneault J, Aubin G, Simard F, De Braekeleer M (1991) Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). Clin Genet 40:298–303
De Braekeleer M (1991) Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 41:141–146
De Braekeleer M, Larochelle J (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 47:302–307
De Braekeleer M, Larochelle J (1991) Population genetics of vitamin D-dependent rickets in northeastern Quebec. Ann Hum Genet 55:283–290
De Braekeleer M, Dionne C, Gagne C, Julien P, Brun D, Murthy MRV, Lupien PJ (1991) Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. Hum Hered 41:168–173
Gauvreau D, Guérin M, Hamel M (1991) Charlevoix au Saguenay: mesure et caractéristiques du mouvement migratoire avant 1911. In: Bouchard G, De Braekeleer M (eds) Histoire d'un génome: population, société et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 145–159
Jetté R, Gauvreau D, Guérin M (1991) Aux origines d'une région: le peuplement fondateur de Charlevoix avant 1850. In: Bouchard G, De Braekeleer M (eds) Histoire d'un génome: population, société et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 76–106
Larbrisseau A, Vanasse M, Brochu P, Jasmin G (1984) The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuropathy. Can J Neurol Sci 11:257–261
Mathieu J, Bédard F, Prévost C, Langevin P (1990) Neuropathie sensitivo-motrice héréditaire avec ou sans agénésie du corps calleux: étude radiologique et clinique de 64 cas. Can J Neurol Sci 17:103–108
Morissette J (1991) La consanguinité dans la population. de Charlevoix 1680–1852. In: Bouchard G, De Braekeleer M (eds) Histoire d'un génome: population, société et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 108–120
Naiman JL, Fraser FC (1955) Agenesis of the corpus callosum: a report of two cases in siblings. Arch Neurol Psychiatr 74:182–185
Roy R, Bouchard G, Declos M (1988) La première génération de Saguenayens: provenance, apparentement, enracinement. ah Québec Démogr 17:113–134
Zellweger H (1952) Agenesis corporis callosi. Helv Pediatr Acta 7:136–155
Ziegler E (1958) Bösartige familiäre frühinfantile Krampfkrankheit, teilweise verbunden mit familiärer Balkenaplasie. Helv Pediatr Acta 13:180–184
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
De Braekeleer, M., Dallaire, A. & Mathieu, J. Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec. Hum Genet 91, 223–227 (1993). https://doi.org/10.1007/BF00218260
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00218260