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P2‐467: GENE MUTATIONS ASSOCIATED WITH EARLY‐ONSET FAMILIAL ALZHEIMER'S DISEASE IN CHINA: AN OVERVIEW AND CURRENT STATUS
Author(s) -
Qin Qi,
Tang Yi,
Jia Jianping
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.1160
Subject(s) - psen1 , presenilin , genetics , mutation , dementia , disease , phenotype , biology , age of onset , gene , genotype , alzheimer's disease , medicine
in 4 of them. Histology showed widespread white matter damage, especially axon destroy with spheroids axons which were stained by NF and Ub, but not Ab and Tau. Macrophages accumulation with foamy and pigmented cytoplasm was seen. Neither inflammation nor demyelization was found. CSF 1Rmutation was found in 3 of them. Conclusions:Small peri-ventricular white matter lesions in young dementia patients should be appreciated. HDLS as one of the hereditary white matter disease could manifest as dementia with or without other symptoms. Persistent DWI hyper-intensity of the lesion on MRI was typical. Characteristic histology and gene analysis were diagnosable. This work was supported by CAMS Innovation fund for medical sciences (2016-I2M-1-004), National Natural Science Foundation of China (81550021,30470618), 13th Five year National Key Research and Development Program of China (2016YFC1306300).