MENINGOCEREBROVASCULAR AMYLOIDOSIS ASSOCIATED WITH A NOVEL TRANSTHYRETIN MIS-SENSE MUTATION AT CODON-18 (TTRD18G)

We describe a novel transthyretin mutation at codon 18 where Asp is re placed by Gly (D18G) in a Hungarian kindred, This mutation is associat ed with meningocerebrovascular amyloidosis, producing dementia, ataxia , and spasticity, Fifty different transthyretin muttatoo2s are related to amyloid deposition, typically producing a peripheral neuropathy or cardiac dysfunction, These symptoms are absent in this family. Up to now, amyloid-beta (A beta), cystatin C, and prion proteins have been k nown to be deposited as amyloid in the brain, leading to stroke or dem entia. With this report we establish that transthyretin amyloid deposi tion can also produce central nervous system dysfunction as the major clinical symptom.