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A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies
Author(s) -
Grazia Spillantini Maria,
Yoshida Hirotaka,
Rizzini Claudia,
Lantos Peter L.,
Khan Nadeem,
Rossor Martin N.,
Goedert Michel,
Brown Jeremy
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200012)48:6<939::aid-ana17>3.0.co;2-1
Subject(s) - corticobasal degeneration , exon , frontotemporal dementia , inclusion bodies , mutation , achromatic lens , neurite , dementia , rna splicing , degenerative disease , neuroscience , biology , genetics , pathology , disease , medicine , central nervous system disease , gene , physics , rna , escherichia coli , astronomy , in vitro
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies is a neurodegenerative disease that resembles corticobasal degeneration. It is characterized by the presence of abundant neuronal and glial tau protein deposits. Here we describe a novel silent mutation in exon 10 of tau (N296N) in this familial dementia. By exon trapping, the mutation produced an increase in the splicing in of exon 10, indicating that it probably causes disease through an overproduction of four‐repeat tau. Ann Neurol 2000;48:939–943