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October 1988

Familial Oculoleptomeningeal AmyloidosisReport of a New Family With Unusual Features

Author Affiliations

From the Departments of Clinical Neurological Sciences (Drs Uitti and Donat), Pathology (Dr Rozdilsky), and Ophthalmology (Dr Schneider), University of Saskatchewan, Saskatoon, and the Neurology Service, Veterans Administration Medical Center, Albany, NY (Dr Koeppen).

Arch Neurol. 1988;45(10):1118-1122. doi:10.1001/archneur.1988.00520340072015

• A family had a dominantly inherited amyloid angiopathy that involved the meninges of the brain and spinal cord, retina, vitreous humor, peripheral nerves, and systemic organs. Clinical features included hemiplegic migraine, periodic obtundation, psychosis, seizures, intracerebral hemorrhage, myelopathy, visual impairment, deafness, and peripheral neuropathy. Pathological findings consisted of amyloid deposition in the leptomeningeal and retinal vessels, in the vitreous humor, and in perivascular tissue throughout the body. Evaluation of the amyloid showed it to be a transthyretin (prealbumin). A brief course of plasmapheresis produced a short-lived decreased concentration in circulating transthyretin.