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NEUROLOGY 1990;40:1882
© 1990 American Academy of Neurology

Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome

Clinical, biochemical, and neuropathologic studies of 2 new cases

T. L. Perry, MD, J. M. Wright, MD, PhD, FRCP(C), K. Berry, MD, FRCP(C), S. Hansen, BA and T. L. Perry, Jr., MD, FRCP(C)

Departments of Pharmacology & Therapeutics (Drs Perry and J.M. Wright, S. Hansen, and Dr. T.L. Perry, Jr.), Medicine (Drs. J.M. Wright and T.L. Perry, Jr.), and Pathology (Dr. K. Berry), Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.

We describe 2 new patients from a family in which 10 persons in 3 successive generations had a dominant neuropsychiatric disorder characterized by apathy, central hypoventilation, and parkinsonism. Neuropathologically, both patients showed severe neuronal loss and reactive gliosis in the substantia nigra. Neurochemical studies showed a marked depletion of dopamine in substantia nigra, putamen, and caudate nucleus, as well as reduction in serotonin content in the substantia nigra. Glutamate contents were low in frontal cortex and thalamus, and {gamma}-aminobutyric acid (GABA) contents were low in thalamus and substantia nigra of both patients. In addition, phosphoethanolamine contents were reduced in all brain regions of both patients, especially in the substantia nigra. One patient with severe symptoms had low levels of homovanillic acid, 5-hydroxyindoleacetic acid, and GABA in his CSF repeatedly for 3 years before death (aged 58), while the 2nd patient died (aged 51) of an unrelated cause before developing any symptoms of the familial disorder. Because brain deficiencies of multiple neurotransmitters appear to be involved, this disorder is unlikely to respond to treatment; however, neurochemical studies of CSF may make presymptomatic diagnosis feasible.

Address correspondence and reprint requests to Dr. T.L. Perry, Department of Pharmacology & Therapeutics, The University of British Columbia, Vancouver, BC, V6T 1W5, Canada.

Supported by the Medical Research Council of Canada.

Received February 27, 1990. Accepted for publication in final form May 9, 1990.




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