| Title : Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages - Ghebremedhin_2007_Acta.Neuropathol_114_359 |
| Author(s) : Ghebremedhin E , Thal DR , Schultz C , Braak H , Deller T |
| Ref : Acta Neuropathologica , 114 :359 , 2007 |
|
Abstract :
The presence of the K variant of the butyrylcholinesterase gene (BCHE-K) has been associated with the severity of Alzheimer's disease (AD)-related neurofibrillary tangles (NFT) and amyloid beta-protein (Abeta). To examine the impact of BCHE-K on the development of initial NFT- and Abeta pathologies in young individuals below the age of 45 years a total of 124 cases (110 cases with NFT-only pathology, 14 cases with Abeta-only pathology) and 104 matched controls were genotyped for BCHE-K. Homozygosity for BCHE-K was highly overrepresented among NFT-only group (8.2%) compared with controls (1%, P = 0.02) or the Abeta-only group (0%). The prevalence of the K allele, however, was comparable among groups. These findings suggest that homozygosity, but not heterozygosity, for BCHE-K is a potential risk factor for the development of NFT pathology in young individuals implicating BCHE-K in the pathogenesis of early AD. |
| PubMedSearch : Ghebremedhin_2007_Acta.Neuropathol_114_359 |
| PubMedID: 17701416 |
Ghebremedhin E, Thal DR, Schultz C, Braak H, Deller T (2007)
Homozygosity for the K variant of BCHE gene increases the risk for development of neurofibrillary pathology but not amyloid deposits at young ages
Acta Neuropathologica
114 :359
Ghebremedhin E, Thal DR, Schultz C, Braak H, Deller T (2007)
Acta Neuropathologica
114 :359