| Autor: |
Hata, Yukiko, Nakase, Mio, Ichimata, Shojiro, Yoshida, Koji, Nishida, Naoki |
| Zdroj: |
Alzheimer's & Dementia: The Journal of the Alzheimer's Association; Mar2024, Vol. 20 Issue 3, p2291-2296, 6p |
| Abstrakt: |
INTRODUCTION: Neuropathological investigation of presymptomatic or early symptomatic presenilin‐1 (PSEN1) mutation carriers in familial Alzheimer's disease (AD) is extremely scarce. METHODS: We report the autopsy findings of brothers with familial AD. Case 1 is a 45‐year‐old man without obvious cognitive impairment, who committed suicide. Case 2 is a 57‐year‐old older brother of Case 1 with advanced AD symptoms, who died of hypothermia during wondering. RESULTS: In both cases, abundant amyloid plaques positive for amyloid β (Aβ) were found throughout the brain. Progression of neuronal loss and increasing amount and extension of neurofibrillary tangle pathology were evident in Case 2. Genetic investigation revealed a PSEN1_p. L392V mutation in both cases. DISCUSSION: The present study shows a possible neuropathological boundary between symptomatic and preclinical AD with pathogenic PSEN1 mutation. Additional clinicopathological investigation for familial AD‐related mutation carriers may be significant to explore the association between familial AD and suicide. [ABSTRACT FROM AUTHOR] |
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