Literature DB >> 30320594

Progress of Brain Amyloid Deposition in Familial Alzheimer's Disease with Taiwan D678H APP Mutation.

Yi-Ching Weng1, Ing-Tsung Hsiao2,3, Chu-Yun Huang4, Kuo-Lun Huang1, Chi-Hung Liu1, Ting-Yu Chang1, Tzu-Chen Yen2,3, Kun-Ju Lin2,3, Chin-Chang Huang1,5.   

Abstract

BACKGROUND: The amyloid AV-45 (florbetapir) positron emission tomography (PET) has been used in the study of the familial Alzheimer's disease (FAD) with the D678H amyloid precursor protein (APP) mutation. In addition, the progress of the disease remains unknown.
OBJECTIVE: We aim to investigate the progression rate of amyloid accumulation in FAD patients with this mutation by neuroimages analysis.
METHODS: The clinical course, changes in cognitive function, brain magnetic resonance imaging (MRI) and 18F-AV-45 PET scan were investigated in FAD patients and sporadic AD (sAD) patients. We compared the amyloid deposition pattern in serial brain 18F-AV-45 PET scan among the FAD, familial mild cognitive impairment (FMCI), and sMCI and sAD patients.
RESULTS: Seven familial patients received a follow-up survey. The follow up duration for brain AV-45 PET was from 1.54 to 3.61 years. In 4 FMCI patients, an increased regional SUVR was noted, and the annual change rates were increased from 1.03% to 18.82%. However, a decreased regional SUVR was noted in 3 FAD patients and the annual change rates were from -2.62% to -16.03%. As compared with the sAD and sMCI patients, the annual change rate is statistically significant in FAD and FMCI patients respectively.
CONCLUSIONS: The data indicate a biphasic course with an initial increase and then a decrease of SUVR in brain amyloid PET scan in familial APP mutation patients. The data also reveal that the novel Taiwan APP (D678H) mutation has a more amyloid burden than the sAD patients, particularly in an MCI stage.

Entities:  

Keywords:  Amyloid; Taiwan D678H APP mutation; angiopathy; annual change rate; brain AV-45 PET; familial zzm321990Alzheimer’s disease

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Year:  2018        PMID: 30320594     DOI: 10.3233/JAD-180824

Source DB:  PubMed          Journal:  J Alzheimers Dis        ISSN: 1387-2877            Impact factor:   4.472


  2 in total

1.  Tau PET With 18F-THK-5351 Taiwan Patients With Familial Alzheimer's Disease With the APP p.D678H Mutation.

Authors:  Chin-Chang Huang; Ing-Tsung Hsiao; Chu-Yun Huang; Yi-Ching Weng; Kuo-Lun Huang; Chi-Hung Liu; Ting-Yu Chang; Hsiu-Chuan Wu; Tzu-Chen Yen; Kun-Ju Lin
Journal:  Front Neurol       Date:  2019-05-22       Impact factor: 4.003

2.  Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Authors:  Yung-Shuan Lin; Chih-Ya Cheng; Yi-Chu Liao; Chen-Jee Hong; Jong-Ling Fuh
Journal:  Sci Rep       Date:  2020-11-13       Impact factor: 4.379

  2 in total

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