TY - JOUR
T1 - A New Familial Syndrome with Ataxia, Hearing Loss, and Mental Retardation
T2 - Report of Three Brothers
AU - Berman, Wulfred
AU - Haslam, Robert H.A.
AU - Konigsmark, Bruce W.
AU - Capute, Arnold J.
AU - Migeon, Claude J.
PY - 1973/10
Y1 - 1973/10
N2 - 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.
AB - 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.
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U2 - 10.1001/archneur.1973.00490280070010
DO - 10.1001/archneur.1973.00490280070010
M3 - Article
C2 - 4728186
AN - SCOPUS:0015907666
SN - 0003-9942
VL - 29
SP - 258
EP - 261
JO - Archives of neurology
JF - Archives of neurology
IS - 4
ER -