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- W2034703956 abstract "A 49 year old male had developed cognitive impairment from age 44. According to ICD-10, DSMIV-TR and NINCDS-ADRDA AlzheimerÂ's dementia was probable from his clinical findings even though neuroimaging with MRI and FDG-PET had revealed no abnormalities. Total Tau and beta-amyloid in CSF were within normal range and only elevated phospho-Tau suggested Alzheimer pathology. Amyloid-PET using florbetaben, however, showed pronounced basal ganglia accumulation, which suggested a genetic correlate despite of a negative family history. There was no clinical correlate of the basal ganglia imaging findings. Molecular analysis in the patient uncovered a PSEN1 mutation. Both parents (70 and 67 years old) were found unaffected on examination and neither showed the PSEN1 mutation. Further analyses proved that our patient was their true descendant. Thus, his L392V mutation has clearly arisen d e novo. Although their existence is not surprising, these mutations have yet rarely been observed in AlzheimerÂ's disease (Dumanchin et al. J Med Genet 1998 35(8):672-73) and our case report is the first one from Germany. In summary, genetic AlzheimerÂ's disease must be considered in all cases of early onset dementia and in particular if there is supporting evidence from the specific pattern of basal ganglia accumulation on amyloid imaging." @default.
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- W2034703956 date "2014-07-01" @default.
- W2034703956 modified "2023-09-27" @default.
- W2034703956 title "P4-299: FIRST PROVEN OBSERVATION OF A DE NOVO PSEN1 MUTATION FROM GERMANY" @default.
- W2034703956 doi "https://doi.org/10.1016/j.jalz.2014.07.070" @default.
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