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).
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).
Authors: Jennifer L Ziskin; Michael D Greicius; Wan Zhu; Anna N Okumu; Christopher M Adams; Edward D Plowey Journal: Acta Neuropathol Commun Date: 2015-07-10 Impact factor: 7.801
Authors: P McColgan; S Viegas; S Gandhi; K Bull; R Tudor; F Sheikh; J Pinney; M Fontana; D Rowczenio; J D Gillmore; J A Gilbertson; C J Whelan; S Shah; Z Jaunmuktane; J L Holton; J M Schott; D J Werring; P N Hawkins; M M Reilly Journal: J Neurol Date: 2014-12-09 Impact factor: 4.849
Authors: Angelo Maria Minnella; Roberta Rissotto; Elena Antoniazzi; Marco Di Girolamo; Marco Luigetti; Martina Maceroni; Daniela Bacherini; Benedetto Falsini; Stanislao Rizzo; Laura Obici Journal: Genes (Basel) Date: 2021-06-22 Impact factor: 4.096