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 - Oct 1973

    Fingerprint

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this