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Thomas L. Perry, MD; Paul J. A. Bratty, MD, FRCP (C); Shirley Hansen; Janet Kennedy; Nadine Urquhart, PhD; Clarisse L. Dolman, MD, FRCP (C)

Arch Neurol. 1975;32(2):108-113.

Abstract
An unusual neuropsychiatric disorder inherited in autosomal dominant fashion occurred in three successive generations of a family. Symptoms commenced late in the fifth decade in six affected patients and led to death in four to six years. The earliest and most prominent symptom was mental depression not responsive to antidepressant drugs or electroconvulsive therapy. This was accompanied by exhaustion, sleep disturbances, and marked weight loss. Later in the disease, symptoms of parkinsonism appeared, and respiratory failure occurred terminally.

The most recently affected family member was investigated biochemically late in his illness. Concentrations of taurine were greatly diminished in plasma and cerebrospinal fluid, and at autopsy, all regions of brain examined had a markedly reduced taurine content. Since taurine is a putative inhibitory synaptic transmitter, deficiency of brain taurine may possibly have caused the psychiatric and neurological manifestations of this disorder.

Author Affiliations
From the departments of pharmacology, medicine, and pathology, the University of British Columbia and the Shaughnessy Hospital, Vancouver, British Columbia, Canada.

Footnotes
Accepted for publication June 10, 1974.

Reprint requests to Department of Pharmacology, University of British Columbia, Vancouver, British Columbia, Canada (Dr. Perry).

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