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

110 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Prealbumin
Amyloidosis
Amyloid
Codon
Mutation
Dementia
Cystatin C
Peripheral Nervous System Diseases
Ataxia
Central Nervous System
Stroke
Brain

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Vidal, R., Garzuly, F., Budka, H., Lalowski, M., Linke, R. P., Brittig, F., ... 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.

Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G). / Vidal, Ruben; Garzuly, Ferenc; Budka, Herbert; Lalowski, Maciej; Linke, Reinhold P.; Brittig, Ferenc; Frangione, Blas; Wisniewski, Thomas.

In: American Journal of Pathology, Vol. 148, No. 2, 02.1996, p. 361-366.

Research output: Contribution to journalArticle

Vidal, R, Garzuly, F, Budka, H, Lalowski, M, Linke, RP, 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, vol. 148, no. 2, pp. 361-366.
Vidal, Ruben ; Garzuly, Ferenc ; Budka, Herbert ; Lalowski, Maciej ; Linke, Reinhold P. ; Brittig, Ferenc ; Frangione, Blas ; Wisniewski, Thomas. / Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G). In: American Journal of Pathology. 1996 ; Vol. 148, No. 2. pp. 361-366.
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