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Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism

From Baylor College of Medicine, Departments of Neurology and Pathology (Drs. Jankovic, Kirkpatrick, and Blomquist), Texas Medical Center, Houston, TX, and the Brain Tissue Resource Center, McLean Hospital and Harvard Medical School (Mr. Langlais and Dr. Bird), Belmont, MA.

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.

Address correspondence and reprint requests to Dr. Jankovic, Department of Neurology, Baylor College of Medicine, Texas Medical Center, Houston, TX 77030.

Supported in part by PHS Grant No. MH/NS 31862, The Wills Foundation, and the Edward G. Cale Alzheimer's, Disease Research Fund.

Accepted for publication June 12, 1984.

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