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 journalArticle

48 Citations (Scopus)

Abstract

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
Volume56
Issue number9
DOIs
StatePublished - Sep 1999

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Prealbumin
Amyloidosis
DNA Sequence Analysis
Restriction Fragment Length Polymorphisms
Mutation
Thymine
Cytosine
Central Nervous System Diseases
Cerebral Hemorrhage
Peripheral Nervous System Diseases
Phenylalanine
Codon
Serine
DNA
Polymorphism
DNA Sequencing
Length

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Uemichi, T., Uitti, R. J., Koeppen, A. H., Donat, J. R., & Benson, M. D. (1999). Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Archives of Neurology, 56(9), 1152-1155. https://doi.org/10.1001/archneur.56.9.1152

Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. / Uemichi, Tomoyuki; Uitti, Ryan J.; Koeppen, Arnulf H.; Donat, Jeffrey R.; Benson, Merrill D.

In: Archives of Neurology, Vol. 56, No. 9, 09.1999, p. 1152-1155.

Research output: Contribution to journalArticle

Uemichi, T, Uitti, RJ, Koeppen, AH, Donat, JR & Benson, MD 1999, 'Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64', Archives of Neurology, vol. 56, no. 9, pp. 1152-1155. https://doi.org/10.1001/archneur.56.9.1152
Uemichi, Tomoyuki ; Uitti, Ryan J. ; Koeppen, Arnulf H. ; Donat, Jeffrey R. ; Benson, Merrill D. / Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. In: Archives of Neurology. 1999 ; Vol. 56, No. 9. pp. 1152-1155.
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