A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies

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...

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Bibliographic Details
Published in:Annals of neurology 2000-12, Vol.48 (6), p.939-943
Main Authors: Grazia Spillantini, Maria, Yoshida, Hirotaka, Rizzini, Claudia, Lantos, Peter L., Khan, Nadeem, Rossor, Martin N., Goedert, Michel, Brown, Jeremy
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Brain - pathology
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Dementia - pathology
Female
Humans
Immunohistochemistry
Inclusion Bodies - pathology
Medical sciences
Middle Aged
Neurology
Neurons - pathology
tau Proteins - genetics
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Summary: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
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(200012)48:6<939::AID-ANA17>3.0.CO;2-1