Chenhui Mao

Clinical Reasoning: A 42-year-old man with severe headache, fever, and acute coma

A 42-year-old man underwent brain MRI at a local health facility for severe headache and was found to have a pituitary adenoma. Two days later, he presented to the emergency department of our hospital with high fever and sudden-onset coma. The patient had a history of intermittent moderate headache in the recent 8 months. No medical history of vascular risk factors was identified.

Postmortem Histopathologic Analysis of Neurosyphilis: A Report of 3 Cases With Clinicopathologic Correlations

Neurosyphilis occurs in the late stage of systemic syphilis infection; early diagnosis and treatment are crucial to the prognosis. We review 3 autopsy cases with different subtypes of neurosyphilis, that is cases with meningovascular, general paresis, and a combination of the 2, respectively. We investigated the gross morphology and leptomeninges, vessels, cerebral cortex, white matter, brainstem, cerebellum, olfactory bulb and spinal cord microscopically. We found that meningovascular inflammation exists in both early and late phases of neurosyphilis, not only in the meningovascular subtype. Vertebrobasilar artery involvement is common and infarcts of the areas perfused by these arteries in young patient highly suggests neurosyphilis. Damage to the cortical architecture and neuropil is the main mechanism of dementia in general paresis and temporal lobe may not firstly be involved as many other diseases with dementia. Early involvement of olfactory bulbs may help in the early diagnosis of the disease. Our findings indicate that many specific features may help in clinical practice and that further research is needed to clarify the mechanisms.

A DYNAMIC MRI OBSERVATION OF PATIENTS WITH AD AND FTLD

in the MTG [r(10)1⁄4-.604, p1⁄4.032], whereas verbal fluency impairment was predicted by Flortaucipir signal in the IFG [r(7)1⁄4-.702, p1⁄4.039]. All results remained similar when the analysis was repeated without partial volume correction and in the right hemisphere. Conclusions:Our results suggest that Flortaucipir imaging is useful for distinguishing between PPA patients with and without Alzheimer’s pathology; and that Flortaucipir signal in PPA patients without Alzheimer’s pathology is behaviorally relevant.

CLINICAL MANIFESTATIONS AND WHITE MATTER CHANGES IN GENE MUTATED EARLY ONSET ALZHEIMER’S DISEASE

[APOE4], education (i.e. years of schooling) and their interaction on Ab burden (mean neocortical SUVR). Analyses were controlled for age, gender and, for ADAD, mutation type (APP/presenilin1/ presenilin2). Results: EYO was related to increased Ab burden in both cohorts (Figure1). In asymptomatic individuals with a PH of sAD, we found an effect of APOE4 status, education, and an APOE4*education interaction, such that the protective effect of education was stronger in APOE4 carriers (Figure 2). In presymptomatic ADAD, APOE4 had no effect on Ab accumulation, but completing higher levels of education were associated with lower Ab burden. Complementary analysis in ADAD highlighted an education*mutation type interaction, indicating a stronger effect of education in presenilin carriers (Figure 2). Conclusions:Our results suggest that a sporadic parental EYO might help to predict Ab accumulation in preclinical sAD. While APOE4 is highly associated with Ab burden in people at risk of sAD, APOE4 has no impact in ADAD. By contrast, environmental factors, approximated here using education, could affect biomarker progression in both variants of the disease, suggesting the existence of reserve mechanism both in individuals at risk of sAD and ADAD mutation carriers.

GRN GENOTYPE DISTRIBUTION IN DEMENTIA CLINICAL SYNDROMES AND ITS CORRELATION WITH COGNITIVE FUNCTION

Slow walking speed (sWS) was defined as walking with a speed below 0.8 m/s. Hazard ratios (HR) of dementia (according to the DSM-IV edition), with 95% confidence intervals (CI), were estimated using Cox regression analyses. Mixed-effect linear regression models were used to quantify the association between isolated CIND, isolated sWS and the combination of these conditions and cognitive decline (as assessed with the Mini Mental State Examination). Results: During the 9-year follow-up, participants with both CIND and sWS had four times higher risk of dementia (HR: 4.1; 95% CI: 2.9-5.7), as compared with those free from these conditions. When considering isolated CIND or isolated sWS we obtained attenuated results (HR: 2.6; 95% CI: 1.9-3.5; HR: 1.8; 95% CI: 1.2-2.5, respectively). Participants with both CIND and sWS had the worst cognitive performance at baseline (b -1.2 [95%CI -1.4, -1.0], p-value<.001), and the steepest cognitive decline over the follow-up period (b -0.85 [95%CI -0.99, -0.71], p-value<.001), respect to people free from these conditions. Conclusions:The simultaneous presence of CIND and sWS identify a peculiar frail population with a higher risk of dementia and cognitive decline, which might deserve ad hoc assessments and care.

REVERSIBLE WHITE MATTER LESIONS IN NPH: TWO CASE REPORTS

Background: Normal pressure hydrocephalus (NPH) is considered as the only reversible dementia which can be improved by shunting operation. Among them white matter lesions are very common, which are sometimes thought to be the sign predicting the poor response to shunting. Methods:Two patient with NPH was herein reported and they underwent the detailed evaluations including neurological examination, lumber puncture, cerebrospinal fluid testing, neuropsychological battery testing, ability of daily living evaluation and intracranial magnetic radiological imaging testing. The clinical and neuroimaging characteristics were compared before and after shunting surgery. Results:The two patient showed prominent recovery after shunting surgery. At the same time the reduction of the white matter lesions was consistent with clinical improvement. Conclusions: It indicated that white matter lesions should not be exclusion for the shunting surgery. This project was supported by grants from CAMS innovation fud for Medical Sciences (2016-I2M-1-004), National Natural Science Foundation of China(81550021) and 13 Five-year National Key Research and Development Program of China(2016YFC1306300).

APOLIPOROTEIN E POLYMORPHISM IN CHINESE POPULATION WITH VARIOUS TYPES OF COGNITIVE DISORDERS

Background:Having an APOE-e4 allele is a risk factor for Alzheimer’s Disease (AD), but some data also suggest that it may have protective effects earlier in life. Low education is another known risk factor for AD. We examined whether parental education interacted with risk genes for AD to predict later cognitive performance. Methods: Participants were 1048 white, non-Hispanic community-dwelling men of European ancestry average age 62. Genetic risk was evaluated with two indicators: the APOE genotype and an AD polygenic risk score (AD-PRS) derived from the International Genomics of Alzheimer’s Project data. Here we used the AD-PRS excluding SNPs in the APOE region. APOEe4 status was categorized as having no e4 allele (e4-; 71%) versus any (e4+; 29%). Parental education was operationalized as having at least one (76%) or neither parent (24%) complete high school. We controlled for non-independence of twins in mixed models, adjusted for the first 3 principal components from the SNP data, and age. Cognitive performance was assessed with a measure of general cognitive ability at ages 20 and 62 and nine specific cognitive abilities at age 62. Results:Both parental education and the parental education by APOE genotype interaction were significantly associated with GCA at ages 20 and 62, as well as with five out of nine cognitive abilities at age 62 (Abstract Reasoning, Episodic Memory, Processing Speed, Working Memory, and Visual Spatial Ability). The interactions indicated that being e4+ when neither parent had a high school education was associated with significantly lower cognitive ability scores; however, when one parent had at least a high school education, participants who were ε4+ showed better cognitive function than their ε4counterparts, even including general cognitive ability at age 20. The AD-PRS by parental education interaction was significant for only three cognitive measures. Conclusions: As expected, presence of the APOE-e4 allele under disadvantaged childhood conditions was associated with poorer performance. Consistent with the differential susceptibility hypothesis, however, in more favorable contexts the presence of an ε4 allele appeared to be advantageous. In addition, the age 20 results suggest that these cognitive differences were apparent relatively early in development.

Walking ability and cognitive function change in normal pressure hydrocephalus patients after cerebrospinal fluid tap test

capacity by scale of daily activities. The sample comprised 110 patients with dementia: 74 with Alzheimer’s disease, 12 with vascular dementia diagnosed with Hachinski Ischemia Scale score at least 7 points, plus focal neurological signs, visible lesions on computed tomography, and 24 with other dementias. Results: 6 patients (5.4%) felt that life is not worth living, 3 (2.7%) had wanted to die, one (0.9%) had sinucidal gestures and none made a suicide attempt. The 4 patients who “wanted to die” or had suicidal thoughts had a score of at least 12 on the HAMD. Of these, 3 were clinically depressed. Suicidal ideation and “desire to die” were significantly correlated only with the presence of depressive symptoms in patients with Alzheimer’s disease. There were no significant differences in HAMD scores between groups of dementia. Conclusions:Suicidal ideation and / or “desire to die” was self-reported by 4% of patients with dementia and is associated with co-morbid depressive symptoms, especially in Alzheimer’s disease.