title: A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization.
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.
authors: CHR Rouen, France.
authors: D
authors: D
authors: Campion
authors: A
authors: A
authors: Brice
authors: D
authors: D
authors: Hannequin
authors: S
authors: S
authors: Tardieu
authors: B
authors: B
authors: Dubois
authors: A
authors: A
authors: Calenda
authors: E
authors: E
authors: Brun
authors: C
authors: C
authors: Penet
authors: J
authors: J
authors: Tayot
authors: M
authors: M
authors: Martinez
mesh_terms: D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D001921:Brain / Q000473:pathology*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D004247:DNA / Q000097:blood; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D016874:Neurofibrillary Tangles / Q000473:pathology; D009483:Neuropsychological Tests; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012016:Reference Values; D012727:Sex Characteristics; D012737:Sex Factors
chemical_list: D005819:Genetic Markers; D004247:DNA