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 language||English (US)|
|Number of pages||4|
|Journal||Archives of neurology|
|State||Published - Oct 1973|
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology