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October 1973

A New Familial Syndrome With Ataxia, Hearing Loss, and Mental Retardation: Report of Three Brothers

Author Affiliations

Baltimore; Philadelphia; Baltimore
From the John F. Kennedy Institute (Drs. Berman, Haslam, and Capute); departments of pediatrics (Drs. Berman, Haslam, Capute, and Migeon) and neurology (Dr. Haslam), Pediatric Endocrine Clinic (Dr. Migeon), the Johns Hopkins School of Medicine, Baltimore; and Temple University Health Sciences Center, Philadelphia (Dr. Konigsmark).

Arch Neurol. 1973;29(4):258-261. doi:10.1001/archneur.1973.00490280070010

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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