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

• Published in: Annals of neurology Vol. 48; no. 6; pp. 939 - 943
• Main Authors: Grazia Spillantini, Maria, Yoshida, Hirotaka, Rizzini, Claudia, Lantos, Peter L., Khan, Nadeem, Rossor, Martin N., Goedert, Michel, Brown, Jeremy
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.12.2000; Willey-Liss
• 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; Human; Immunohistochemistry; Nervous system diseases; Achromatic; Pathophysiology; Family study; Cerebral disorder; Pathology; Neuron; Tau protein; Central nervous system disease; Degenerative disease; Mutation; Dementia
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/1531-8249(200012)48:6<939::AID-ANA17>3.0.CO;2-1

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