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Authors: Wu, Liyong | Liu, Jia | Sha, Longze | Wang, Xianling | Li, Jieying | Dong, Jing | Jia, Jianping

Article Type: Short Communication

Abstract: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases. Distinct features, such as subcortical calcification in brain computed tomography and asymmetric abnormal MRI signal along the pyramid tracts throughout brainstem and spinal …cord (cervical, thoracic, and lumbar segments), were observed in one sporadic case with novel mutation. Therefore, the interactions of genotype-phenotype still need to be further investigated. Show more

Keywords: Hereditary leukoencephalopathy with axonal spheroids (HDLS), novel mutation, pedigree, pyramid tract, sporadic case, subcortical calcification

DOI: 10.3233/JAD-161193

Citation: Journal of Alzheimer's Disease, vol. 56, no. 3, pp. 893-898, 2017

Authors: Mao, Chenhui | Sha, Longze | Li, Jie | Huang, Xinying | Chu, Shanshan | Lei, Dan | Wang, Jie | Dong, Liling | Liu, Caiyan | Xu, Qi | Peng, Bin | Gao, Jing

Article Type: Research Article

Abstract: Background: Cerebrospinal fluid (CSF) biomarkers are widely accepted as manifestations of Alzheimer’s disease (AD) pathogenesis and incorporated into biological definition of AD. However, the correlations between CSF and other biomarkers such as neuroimaging and neuropsychiatric evaluation are complicated and inconsistent. Objective: We aimed to better interpreting CSF biomarkers results accompanying with other indexes in improving accurate diagnosis of AD. Methods: 112 AD patients and 30 cognitive normal controls were selected. Commercial accessible ELISA kits were introduced for measurement of CSF t-tau, p-tau181 , Aβ1–42 , and NfL based on standard protocol. MRI examinations were performed using a 3-T MRI scanner …and visual rating scales including medial temporal atrophy score and Koedam’s scale were used to evaluate medial temporal atrophy and posterior region atrophy. Results: CSF biomarkers’ profile including decreased concentration of Aβ1–42 , increased concentration of t-tau, p-tau181 , t-tau/Aβ 1–42 , and NfL were diagnostic between AD and control. CSF biomarkers profile was not influenced by the APOE genotype. Increased concentration of t-tau and NfL, as well as ratio of t-tau/Aβ 1–42 were related to decrease of Mini-Mental State Examination (MMSE) score while concentration of Aβ1–42 not. Visual assessed cortical atrophy was related to MMSE score, but most of the CSF biomarkers were not related to atrophy, except that increased concentration of p-tau181 was significantly associated with atrophy of posterior cortical region. Conclusion: Our results supported CSF biomarkers were helpful in diagnosis of AD. However, CSF biomarkers were cross-sectional reflection of pathogenesis, which did not correlate well with clinical progression. CSF biomarkers should be interpreted in combination with MRI and cognitive evaluation in clinical use. Show more

Keywords: Alzheimer’s disease, biomarkers, cerebrospinal fluid, cognition, cortical atrophy

DOI: 10.3233/JAD-210344

Citation: Journal of Alzheimer's Disease, vol. 82, no. 1, pp. 205-214, 2021

Authors: Dong, Liling | Mao, Chenhui | Liu, Caiyan | Li, Jie | Huang, Xinying | Wang, Jie | Lei, Dan | Chu, Shanshan | Sha, Longze | Xu, Qi | Peng, Bin | Cui, Liying | Gao, Jing

Article Type: Research Article

Abstract: Background: The previous studies have identified several genes in relation to Alzheimer’s disease (AD), such as ABCA7 , CR1 , etc. A few studies have explored the association between the common variants, mainly in the non-coding regions of these genes, and cerebrospinal fluid (CSF) biomarkers. Fewer studies target the variants in the coding regions. Objective: To illustrate the association between the common variants within or adjacent to the coding regions of AD susceptible genes and CSF biomarkers in AD patients. Methods: 75 sporadic probable AD patients were extracted from the dementia cohort of Peking Union Medical College Hospital. They all …had history inquiry, physical examination, blood test, cognitive assessment, brain MRI, CSF testing of Aβ42 , 181 p-tau, and t-tau, and next-generation DNA sequencing. Sixty-nine common single nucleotide polymorphisms (SNPs) (minor allele frequency > 0.01) within or near the coding region of 13 AD susceptible genes were included in the analysis. Results: The rs7412-CC (APOE ) genotype showed lower CSF Aβ42 level and higher p-tau/Aβ42 ratio than the rs7412-CT genotype. The rs3752246-C (ABCA7 ) allele correlated with lower CSF Aβ42 level. The alternate alleles of six ABCA7 SNPs were related to lower CSF p-tau, including rs3745842, rs3764648, rs3764652, rs4147930, rs4147934 and rs881768. The rs11609582-TT (A2M ) genotype showed higher CSF p-tau than the rs11609582-TA genotype. The p-tau/Aβ42 ratio was higher in the rs490460-TT (BACE1 ) genotype relative to the rs490460-GT genotype. Conclusion: Some common variants within or near the coding regions of APOE , ABCA7 , A2M , and BACE1 are associated with CSF Aβ42 , p-tau. or p-tau/Aβ42 . Show more

Keywords: ABCA7, Alzheimer’s disease, amyloid-beta, APOE, cerebrospinal fluid, phosphorylated tau, single nucleotide polymorphism

DOI: 10.3233/JAD-215067

Citation: Journal of Alzheimer's Disease, vol. 85, no. 4, pp. 1511-1518, 2022

Authors: Dong, Liling | Liu, Caiyan | Sha, Longze | Mao, Chenhui | Li, Jie | Huang, Xinying | Wang, Jie | Chu, Shanshan | Peng, Bin | Cui, Liying | Xu, Qi | Gao, Jing

Article Type: Research Article

Abstract: Background: The established causative mutations in the APP , PSEN1 , and PSEN2 can explain less than 1%,Alzheimer’s disease (AD) patients. Of the identified variants, the PSEN2 mutations are even less common. Objective: With the genetic study from the dementia cohort of Peking Union Medical College Hospital (PUMCH), we aim to illustrate the PSEN2 mutation spectrum and novel functionally validated mutations in Chinese AD patients. Methods: 702 AD participants, aged 30–85, were identified in PUMCH dementia cohort. They all received history inquiry, physical examination, biochemical test, cognitive evaluation, brain CT/MRI, and next-generation DNA sequencing. Functional analysis was achieved by transfection …of the HEK293 cells with plasmids harboring the wild-type PSEN2 or candidate mutations. Results: Nine PSEN2 rare variants were found, including two reported (M239T, R62C) and seven novel variants (N141S, I368F, L396I, G117X, I146T, S147N, H220Y). The HEK293 cells transfected with the PSEN2 N141S, M239T, I368F plasmids showed higher Aβ42 and Aβ42 /Aβ40 levels relative to the wild-type PSEN2 . The PSEN2 L396I, G117X, S147N, H220Y, and R62C did not alter Aβ42 , Aβ40 levels, or Aβ42 /Aβ40 ratio. 1.9%,(13/702) subjects harbored rare PSEN2 variants. 0.4%,(3/702) subjects carried pathogenic/likely pathogenic PSEN2 mutations. The three subjects with the functionally validated PSEN2 mutations were all familial early-onset AD patients. The common symptoms included amnesia and mental symptom. Additionally, the M239T mutation carrier presented with dressing apraxia, visuospatial agraphia, dyscalculia and visual mislocalization. Conclusion: The PSEN2 N141S, M239T, and I368F are functionally validated mutations. Show more

Keywords: Alzheimer’s disease, pathogenic mutations, PSEN2

DOI: 10.3233/JAD-220194

Citation: Journal of Alzheimer's Disease, vol. 87, no. 4, pp. 1549-1556, 2022