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

Wulfred Berman, Robert H A Haslam, Bruce W. Konigsmark, Arnold J. Capute, Claude J. Migeon

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)258-261
Number of pages4
JournalArchives of Neurology
Volume29
Issue number4
DOIs
StatePublished - 1973

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Motor Neuron Disease
Ketosteroids
Hypogonadism
Reardon Wilson Cavanagh syndrome
Brothers
Hearing Impairment
Mental Retardation
Familial
Syndrome
Richards-Rundle syndrome

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

A New Familial Syndrome with Ataxia, Hearing Loss, and Mental Retardation : Report of Three Brothers. / Berman, Wulfred; Haslam, Robert H A; Konigsmark, Bruce W.; Capute, Arnold J.; Migeon, Claude J.

In: Archives of Neurology, Vol. 29, No. 4, 1973, p. 258-261.

Research output: Contribution to journalArticle

Berman, Wulfred ; Haslam, Robert H A ; Konigsmark, Bruce W. ; Capute, Arnold J. ; Migeon, Claude J. / A New Familial Syndrome with Ataxia, Hearing Loss, and Mental Retardation : Report of Three Brothers. In: Archives of Neurology. 1973 ; Vol. 29, No. 4. pp. 258-261.
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