A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy.
We report a novel missense mutation, D678H, in the APP gene in a Taiwanese patient who had progressive cognitive decline beginning in middle age. Brain MRI showed leukoencephalopathy, cortical microhemorrhages and focal superficial cortical hemosiderosis, which are consistent with cerebral amyloid angiopathy. A phenotype of combined dementia and cerebral microvasculopathy suggested concurrent increases in brain parenchymal and cerebrovascular beta-amyloid peptide (Aβ) deposition in this patient. The promotion of Aβ aggregation has been postulated to underlie the pathogenic mechanism of the mutation.
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Min-Yu
MY
Lan
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan; Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Jia-Shou
JS
Liu
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan; Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Yi-Shan
YS
Wu
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan.
Chen-Huei
CH
Peng
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan; Center for Parkinson's Disease, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan; Chang Gung University College of Medicine, Kaohsiung, Taiwan. Electronic address: changyy7@gmail.com.
Yung-Yee
YY
Chang
D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics* / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense
C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor
Alzheimer’s disease; Amyloid precursor protein; Beta-amyloid peptide; Cerebral amyloid angiopathy; Mutation