Kluenemann, Hans H. and Fronhoefer, Wolfgang and Werner-Fuechtenbusch, Doris and Grasbon-Frodl, Eva and Kloiber, Stefan and Wurster, Herbert W. and St George-Hyslop, Peter H. and Rogaeva, Ekaterina (2006) Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia. ALZHEIMER DISEASE & ASSOCIATED DISORDERS, 20 (4). pp. 291-294. ISSN 0893-0341,
Full text not available from this repository. (Request a copy)Abstract
We describe the kindred of Alois Alzheimer's second published patient (Johann F.) with the brain pathology typical of a subgroup of Alzheimer disease called "plaque-only type." The genealogic records of the kindred extend back to 1670. We constructed a family tree of 1403 individuals and identified 4 living demented members of the Johann F. kindred. The pedigree is consistent with an autosomal dominant trait. The analyses of known dominant dementia genes (APP, PS1, PS2, PRNP, and BRI) failed to reveal mutations in the proband. Further examination of this family might yield new insights into the genetics of Alzheimer disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MISSENSE MUTATIONS; PROTEIN GENE; DISEASE; REDISCOVERY; Alzheimer disease; genetics; Alois Alzheimer; plaque-only Alzheimer; familial Alzheimer; early-onset Alzheimer; Johann F |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 20 Jan 2021 11:19 |
| Last Modified: | 20 Jan 2021 11:19 |
| URI: | https://pred.uni-regensburg.de/id/eprint/33900 |
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