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Tomoyuki Uemichi, MD, PhD; Ryan J. Uitti, MD; Arnulf H. Koeppen, MD; Jeffrey R. Donat, MD; Merrill D. Benson, MD

Arch Neurol. 1999;56:1152-1155.

Background  A Canadian family with oculoleptomeningeal amyloidosis with both central and peripheral nervous system disorders was described in 1988. Death of affected family members resulted from recurrent cerebral hemorrhage.

Objective  To determine if oculoleptomeningeal amyloidosis is caused by a mutation in transthyretin (prealbumin).

Methods  DNA isolated from peripheral blood and archival tissues of affected members of the kindred was studied by direct DNA sequencing and restriction fragment length polymorphism analysis.

Results  Direct DNA sequencing identified a thymine-to-cytosine transition at the second base of codon 64, which resulted in a replacement of serine for phenylalanine. This mutation, which creates an additional HinfI site was detected by restriction fragment length polymorphism analysis in each affected individual.

Conclusion  In this kindred, oculoleptomeningeal amyloidosis is related to a mutation in transthyretin (Phe64Ser).

From the Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (Drs Uemichi and Benson); Osaka Medical Center for Cancer and Cardiovascular Diseases, Osaka, Japan (Dr Uemichi); Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, Fla (Dr Uitti); Neurology Service, Stratton Veterans Affairs Medical Center, Albany, NY (Dr Koeppen); Department of Clinical Neurological Sciences, University of Saskatchewan, Saskatoon, (Dr Donat); and The Richard L. Roudebush Veterans Affairs Medical Center, Indianapolis (Dr Benson).

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