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NEUROLOGY 1995;45:80-85
© 1995 American Academy of Neurology

A large pedigree with early-onset Alzheimer's disease

Clinical, neuropathologic, and genetic characterization

D. Campion, MD, A. Brice, MD, D. Hannequin, MD, S. Tardieu, B. Dubois, MD, A. Calenda, PhD, E. Brun, C. Penet, J. Tayot, MD, M. Martinez, PhD, M. Bellis, PhD, J. Mallet, PhD, Y. Agid, MD, PhD and F. Clerget-Darpoux, PhD

Article abstract-We present clinical, neuropsychological, and neuropathologic data on a large pedigree including 34 subjects with early-onset progressive dementia. The mean (+\- SD) age at onset was 46 +\- 3.5 years and the mean age at death 52.6 +\- 5.7 years. Twelve patients were clinically diagnosed as having probable Alzheimer's disease (AD) according to the NINCDS-ADRDA criteria. Neuropsychological evaluation, performed at a moderate stage of the disease, was available in six subjects and showed a classic pattern of cognitive deficit. Myoclonus and extrapyramidal signs were common, and seizures were present in all affected subjects. There were neuropathologic changes typical of AD in two brains. A significant lod score of 5.48 was observed at a recombination fraction of theta = 0.0 with the genetic marker D14S43, thereby establishing that the responsible gene was located on chromosome 14q24.3. These results suggest that epilepsy could represent a particular feature in AD families linked to chromosome 14q.

NEUROLOGY 1995;45: 80-85




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