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J Clin Neurosci. 2014 Mar;21(3):513-5. doi: 10.1016/j.jocn.2013.03.038. Epub 2013 Aug 6.

A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy.

Author information

1
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.
2
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.
3
Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, 123 Ta-Pei Road, Niao-Sung, Kaohsiung 833, Taiwan.
4
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.

Abstract

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.

KEYWORDS:

Alzheimer’s disease; Amyloid precursor protein; Beta-amyloid peptide; Cerebral amyloid angiopathy; Mutation

PMID:
23931937
DOI:
10.1016/j.jocn.2013.03.038
[Indexed for MEDLINE]
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