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From INSERM U422 (Dr. Vermersch, N. Sergeant, A. Wattez, and Dr. Delacourte), Place de Verdun, and the Departments of Pathology (Dr. Ruchoux), Neurology (Drs. Vermersch and Petit), and Geriatrics and Internal Medicine (Dr. Dewailly), University of Lille, Lille; and INSERM U383 (Dr. Hofmann-Radvanyi), Hopital Necker-Enfants Malades, Paris, France.
Supported by Association d'Etudes et de Recherches sur la Maladie d'Alzheimer (ADERMA) and CH&U de Lille (93-06).
Received January 4, 1996. Accepted in final form March 11, 1996.
Address correspondence and reprint requests to Dr. A. Delacourte, Unite INSERM 422, Place de Verdun, 59045 Lille cedex, France.
The mutation causing myotonic dystrophy (DM) is an unstable CTG trinucleotide repeat in a gene encoding for a protein with putative serine-threonine kinase activity. Several studies have reported the appearance of abnormally frequent neurofibrillary tangles (NFTs) in the cortex of patients with DM. Using immunologic probes against normal and pathologic hyperphosphorylated tau proteins, the basic components of NFTs, we performed a biochemical and immunohistochemical study of the brains of two DM cases. We compared the tau profiles with those found in Alzheimer's disease (AD) using mono- and two-dimensional immunoblotting. Patients were aged 53 and 61 years at death. In both cases, we observed few perikaryal and axonal inclusions in the hippocampus as well as the entorhinal and inferior temporal cortices. As in AD brain homogenates, pathologic tau proteins, named tau 55, 64, and 69, were exclusively immunodetected in the DM cases in the hippocampus, the entorhinal cortex, and in most of the temporal areas. Amounts of pathologic tau proteins were higher in the more severely affected case, but lower than in AD brain homogenates. Pathologic tau proteins were less acidic in DM than in AD. We found a very low amount of the tau 69 isoform in DM extracts, and in most of the cortical areas, tau 55 was overexpressed compared with AD homogenates. A link between the increase of kinase activity and the presence of pathologic tau proteins is discussed.
NEUROLOGY 1996;47: 711-717
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