Chu-Yun Huang1, Ing-Tsung Hsiao2, Kun-Ju Lin2, Kuo-Lun Huang3, Hon-Chung Fung3, Chi-Hung Liu3, Ting-Yu Chang3, Yi-Ching Weng3, Wen-Chun Hsu3, Tzu-Chen Yen4, Chin-Chang Huang5. 1. Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Pharmacy, Taipei Medical University, Taipei, Taiwan. 2. Molecular Imaging Center and Nuclear Medicine, Chang Gung University and Memorial Hospital, Taoyuan, Taiwan; Medical Imaging and Radiological Sciences, Chang Gung University, Taoyuan, Taiwan. 3. Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan. 4. Molecular Imaging Center and Nuclear Medicine, Chang Gung University and Memorial Hospital, Taoyuan, Taiwan; Medical Imaging and Radiological Sciences, Chang Gung University, Taoyuan, Taiwan. Electronic address: yen1110@cgmh.org.tw. 5. Department of Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address: cch0537@adm.cgmh.org.tw.
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.
INTRODUCTION: The novel D678Hamyloid 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 CDpatients. In subgroup analysis, the familial ADpatients 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 ADpatients. The high amyloid uptake in the occipital area is characteristic of the specific Taiwan APP gene.
Authors: Christopher J Weber; Maria C Carrillo; William Jagust; Clifford R Jack; Leslie M Shaw; John Q Trojanowski; Andrew J Saykin; Laurel A Beckett; Cyrille Sur; Naren P Rao; Patricio Chrem Mendez; Sandra E Black; Kuncheng Li; Takeshi Iwatsubo; Chiung-Chih Chang; Ana Luisa Sosa; Christopher C Rowe; Richard J Perrin; John C Morris; Amanda M B Healan; Stephen E Hall; Michael W Weiner Journal: Alzheimers Dement (N Y) Date: 2021-12-31