IN NOVEMBER, 1962, a family with an unusual neurological disorder was encountered. When the urinary excretion of amino acids was studied in January 1963, a unique pattern was seen and we thought we were dealing with a new syndrome. It soon became apparent that the same disorder had been described by Carson and Neill,5 and Gerritsen et al11 during the preceding months. These authors, together with Cusworth, Dent, Field and Westall3,7 had identified the abnormal compound as homocystine. Since then about 20 cases have been discovered1,3,7,12,16,18,23 and the biochemical abnormality has been identified as a deficiency of cystathionine synthetase.23
The family to be described here illustrates the typical features of the disease. Biochemical and neuropathological studies were carried out in two of three affected individuals (cases 2 and 3), and some neuropathological data were available in the third (case 1).