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Additional resources for Alzheimer's and Parkinson's Diseases: Progress and New Perspectives: 8th International Conference Ad pd, Salzburg, March 2007: Abstracts (Neuro-Degenerative Diseases)
R. S. A. Josephs , R. Rademakers , 3 3 3 M. E. M. Pickering-Brown , 3 8 5 6 J. M. W. E. E. J. C. Petersen 1 2 Department of Neurology, Department of Radiology, Mayo 3 Clinic, Rochester, MN, Department of Neurogenetics, 4 5 Department of Neurology, Department of Neuropathology, 6 Mayo Clinic, Jacksonville, FL, Department of Laboratory 7 Medicine and Pathology, Department of Psychiatry and 8 Psychology, Robert H. and Clarice Smith and Abigail Van Buren Alzheimer S Disease Research Program, Mayo Clinic, Rochester, MN, USA Background & Aims: To report MRI findings in affected members of eight kindreds having mutations in progranulin (PGRN) associated with frontotemporal dementia and parkinsonism (FTDP).
J. E. J. F. N Haidar , M. R. S. A Josephs , M. M. Pickering-Brown , 3 4 1,4 J. C. Petersen 1 2 Department of Neurology, Department of Psychiatry and 3 Psychology, Mayo Clinic, Rochester, MN, Department of 4 Neurogenetics, Mayo Clinic, Jacksonville, FL, Robert H. and Clarice Smith and Abigail Van Buren Alzheimer S Disease Research Program, Mayo Clinic, Rochester, MN, USA Background & Aims: Mutations in PGRN are associated with frontotemporal dementia +/-parkinsonism. We report on the variability in neuropsychological testing among patients who were proven to have mutations in progranulin (PGRN) associated with neurodegenerative disease.
In 3 subjects, striking subcortical signal changes were present on FLAIR, most prominently in regions of maximal cortical atrophy. Six patients had longitudinal MRI scans spanning 2 or more years, and all showed progression of atrophy and subcortical white matter signal changes. In most kindreds, topography of cortical atrophy was highly variable. 1145delC mutation), the right cerebral hemisphere was maximally affected in all three symptomatic siblings. 998delG mutation) had familial primary progressive aphasia, and the left cerebral hemisphere was maximally affected on MRI.