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Andermann's syndrome
Also known as:
Charlevoix disease
Associated persons:
Frederick Andermann
District of Canada Charlevoix
Description:
A familial syndrome affecting both sexes, characterized by agenesis of the corpus callosum, mental retardation, and progressive sensimotor neuropathy. Long list of symptoms include areflexia, paraparesis, microcephaly, seizures, and optic atrophy. All patients described by Andermann et al in 1972 and 1977 were of French-Canadian stock from Charlevoix County, Quebec, Canada. Inheritance is autosomal recessive.
Bibliography:
- Eva Andermann, F. Andermann, Marie Joubert, G. Karpati, S. Carpenter, Denis Melanson:
Familial agenesis of the corpus callosum with anterior horn cell disease: A syndrome of mental retaradtion, areflexia, and paraparesis.
Transactions of the American Neurological Association, New York, 1972, 97: 242-244.
- E. Andermann, F. Andermann, S. Carpenter, G. Karpati, G. Eisen, D. Melancon, D. Bergeron:
Agenesis of corpus callosum with sensorimotor neuropathy: a new autosomal recessive malformation syndrome with high frequency in Charlevoix County, Quebec.
Vth International Conference on on Birth Defects, Montreal, August 1977.
- J. P. Bouchard, et al:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Canadian Journal of Neurological Sciences, Winnipeg, 1978, 5: 61-69.
- A. Labrisseau, et al:
The Andermann syndrome: Agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuropathy.
Canadian Journal of Neurological Sciences, Winnipeg, 1984, 11: 257-261.
- M. Joubert,
Familial agenesis with anterior horn cell disease. A syndrome of mental retaradtion, areflexia, and paraplegia.
Transactions of the American Neurological Association, New York, 1972, 97: 242-244.
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