Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64

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

Research output: Contribution to journalArticlepeer-review

50 Scopus citations


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, oculoleptomeningcal amyloidosis is related to a mutation in transthyretin (Phe64Ser).

Original languageEnglish (US)
Pages (from-to)1152-1155
Number of pages4
JournalArchives of neurology
Issue number9
StatePublished - Sep 1999

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


Dive into the research topics of 'Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64'. Together they form a unique fingerprint.

Cite this