Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)
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-beta (A beta), 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.
Vidal
R
R
Department of Pathology, New York University Medical Center, NY 10016, USA.
Garzuly
F
F
Budka
H
H
Lalowski
M
M
Linke
R P
RP
Brittig
F
F
Frangione
B
B
Wisniewski
T
T
D000595:Amino Acid Sequence; D000682:Amyloid / Q000032:analysis; D001483:Base Sequence; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003062:Codon / Q000235:genetics; D004247:DNA / Q000737:chemistry; D005260:Female; D005838:Genotype; D006801:Humans; D006814:Hungary; D007150:Immunohistochemistry; D008297:Male; D008578:Meninges / Q000098:blood supply / Q000737:chemistry / Q000473:pathology*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*
D000682:Amyloid; D003062:Codon; D011228:Prealbumin; D004247:DNA