Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G)

Ruben Vidal, Ferenc Garzuly, Herbert Budka, Maciej Lalowski, Reinhold P. Linke, Ferenc Brittig, Blas Frangione, Thomas Wisniewski

Research output: Contribution to journalArticle

113 Scopus citations

Abstract

We describe a novel transthyretin mutation at codon 18 where Asp is replaced by Gly (D18G) in a Hungarian kindred. This mutation is associated with meningocerebrovascular amyloidosis, producing dementia, ataxia, and spasticity. Fifty different transthyretin mutations are related to amyloid deposition, typically producing a peripheral neuropathy or cardiac dysfunction. These symptoms are absent in this family. Up to now, amyloid-β (Aβ), cystatin C, and prion proteins have been known to be deposited as amyloid in the brain, leading to stroke or dementia. With this report we establish that transthyretin amyloid deposition can also produce central nervous system dysfunction as the major clinical symptom.

Original languageEnglish (US)
Pages (from-to)361-366
Number of pages6
JournalAmerican Journal of Pathology
Volume148
Issue number2
StatePublished - Feb 1996

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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    Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., Frangione, B., & Wisniewski, T. (1996). Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G). American Journal of Pathology, 148(2), 361-366.