A New Familial Syndrome With Ataxia, Hearing Loss, and Mental Retardation
- 1 October 1973
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 29 (4), 258-261
- https://doi.org/10.1001/archneur.1973.00490280070010
Abstract
A familial disorder characterized by progressive ataxia, hearing loss, mental retardation and signs of both upper and lower motor neuron disease began in infancy in three male sibs. This syndrome differs from the Richards-Rundle syndrome and is unique because of the absence of hypogonadism, aminoaciduria, and low urinary ketosteroid levels. This constellation of features represents a previously unrecognized syndrome, which is probably genetic in origin and may be transmitted by an autosomal recessive mode.Keywords
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