Highlights
- •The study evaluated the amyloid patterns and clinical features in the Taiwan familial AD with D678H APP mutation.
- •Early onset of memory impairment and cerebral amyloid angiopathy in 2 patients.
- •The highest stardand uptake value ratio in the occipital and cerebellar cortical areas in the gCD patients.
- •The familial D678H gene mutation patients have a more potent amyloid burden than the sporadic AD patients
Abstract
Introduction
The novel D678H amyloid precursor protein (APP) gene mutation has been called the
“Taiwan mutation”. The study aims to identify amyloid deposition patterns and clinical
features associated with this mutation.
Methods
we analyzed the clinical manifestations, brain neuroimages and 18F-AV-45 positron emission tomography (PET) findings in symptomatic patients and asymptomatic
subjects with the autosomal-dominant Alzheimer's disease (AD). We compared the amyloid
deposition pattern among 10 patients with genetically-positive familial cognitive
decline (CD), 18 patients with sporadic CD, and 19 healthy controls.
Results
The clinical features were the early onset of memory impairment in all 10 patients
and cerebral amyloid angiopathy in 3 patients. The characteristic results of brain
18F-AV-45 PET included the highest standard uptake value ratio (SUVR) in the occipital
and cerebellar cortical areas in the genetically-positive CD patients. In subgroup
analysis, the familial AD patients had a decreased amyloid SUVR trend in most areas
except for cerebellar cortex compared to those with familial mild cognitive impairment.
Conclusion
Our data indicate that the familial D678H gene mutation have resulted in a more potent
amyloid burden than in the patients with sporadic AD patients. The high amyloid uptake
in the occipital area is characteristic of the specific Taiwan APP gene.
Abbreviations:
ADAS-Cog (Alzheimer's disease assessment scale-cognitive subscale), AD (Alzheimer's disease), Aβ (amyloid-β), APP (amyloid precursor protein), APoE (apolipoprotein), CD (cognitive decline), FAD (familial Alzheimer's disease), FLAIR (fluid attenuation inversion recovery), gAD (genetic Alzheimer's disease), gCD (genetic cognitive decline), HC (healthy control), MCI (mild cognitive impairment), MMSE (Mini-Mental State Examination), PCR (polymerase chain reaction), PS1 (presenilin 1), PS2 (presenilin 2), sAD (sporadic Alzheimer's disease), sCD (sporadic cognitive decline), SUVR (standard uptake value ratio), VOI (volume of interest)Keywords
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Article info
Publication history
Published online: January 03, 2019
Accepted:
December 31,
2018
Received in revised form:
December 26,
2018
Received:
September 26,
2018
Identification
Copyright
© 2018 Published by Elsevier B.V.
