Objective To analyze features of clinical manifestation, laboratory tests, electrophysiology and imagol?ogy of Heidenhain’s variant of Creutzfelt-Jakob disease (CJD). Methods Clinical data, laboratory and electrophysiologi?cal results as well as medical images were collected from 3 patients with Heidenhain variant of CJD. Results Three pa?tients presented with rapid visual impairment at onset and refractory pruritus. Whole gene sequencing indicated that one patient had point mutation at E200K whereas the other two did not the mutation. All the cases had positive 14-3-3 pro?tein in CSF. Patients had three phases sharp waves burst at posterior part of cerebral cortices with slow waves back?ground in EEG, no evoked P100 in visual evoked potential test,‘cortical ribbon sign’at bilateral occipital lobe in DWI sequence of head MRI and hypometabolism of glucose from occipital cortex spreading to extensive cerebral cortices in PET/CT. Conclusion Head MRI and EEG should be conducted in old patients with visual disturbance as the onset symptom, followed by rapid cognitive impairment, ataxia and extrapyramidal symptom to rule out Heidenhain variant of CJD. Refractory pruritus indicates a high likelihood of CJD.

Objective To explore the diagnostic feasibility of Alzheimer disease (AD) associated CSF biomarker (CSF Aβ42, T-tau, and P-tau181) through establishing the cutoff value and the sensitivity and specificity of each biomarker. Methods Seventeen AD dementia patients were enrolled from Peking university first hospital during 2015 July and 2017 Feb including 5 patients that received PET scan using Pittsburgh compound-B. Forty-nine cognitive normal subjects were also enrolled as controls according to the protocol. The levels of Aβ42, T-tau, P-tau181 and the ratio of Aβ42/T-tau、Aβ42/ P-tau181 from all participants were assessed using the innotest-ELISA methods and cutoff value,sensitivity as well as specificity of each biomarker were determined according to the ROC curve. Results There were significant differences in all biomarkers between the cognitive normal controls group and AD dementia group. The cutoff value of Aβ42, T-tau, P-tau181, Aβ42/T-tau and Aβ42/ P-tau181 were 511 ng/mL, 322 ng/mL, 63 ng/mL, 14.72 and 1.74. The sensitivity were 64.7% in Aβ42, 88.2% in T-tau, 58.8% in P-tau181, 82.35% in Aβ42/T-tau and 76.47% in Aβ42/ P-tau181, respectively. The specificity were 97.05% in Aβ42, 75.5% in T-tau, 93.87% in P-tau181, 95.51 % in Aβ42/T-tau and 93.87% in Aβ42/P-tau181, respectively. Conclusion Alzheimer disease associated biomarkers (CSF Aβ42,T-tau, and P-tau181) can distinguish the cognitive normal subjects from AD dementia patients. The methods are reliable and the sensitivity as well as specificity of each biomarker are good which are close to the values reported in the literatures. Thus, this methodology is worth being promoted in the clinic.

An adult man of methylmalonic acidemia combined with hyperhomocysteinemia is reported. He presented with progressive walking instability with mental and behavioral alterations when aged 24 years. Physical examination showed significant cerebellar ataxia and pyramidal signs. Brain magnetic resonance imaging revealed symmetric lesions of bilateral cerebellum. His plasma total homocysteine and urine methylmalonic acid were significantly elevated. Compound heterozygous mutations, c.482G>A and c.217C>T, were found in his MMACHC gene, confirming the diagnosis of cblC deficiency. Improved clinical manifestations and decreased plasma total homocysteine were observed one month after treatment.

The patient is a young woman,manifested as orthostatic hypotension and gastrointestinal motility disorders in acute onset.The physical examination and laboratory test suggested disorders of wide range of autonomic neuropathy.The levels of serum antinuclear antibody and SSA antibody were elevated.The biopsy of lip gland suggested Sjogren's syndrome.Nerve biopsy showed loss of a large number of unmyelinated nerve fibers.After the treatment of intravenous gamma globulin and glucocorticoid and symptomatic treatment,the symptoms of orthostatic hypotension were significantly relieved,but the gastrointestinal motility was not significantly improved.

Background: and Purpose The eye-movement examination can be applied as a noninvasive method to identify multiple-system atrophy (MSA). Few studies have investigated eye movements during the early stage of MSA with predominant parkinsonism (MSA-P). We aimed to determine the characteristic oculomotor changes in the early stage of MSA-P. Methods: We retrospectively selected 17 patients with MSA-P and 40 with Parkinson’s disease (PD) with disease durations of less than 2 years, and 40 age-matched healthy controls (HCs).Oculomotor performance in the horizontal direction was measured in detail using videonystagmography. Results: We found that the proportions of patients with MSA-P and PD exhibiting abnormal eye movements were 82.4% and 77.5%, respectively, which were significantly higher than that in the HCs (47.5%, p<0.05). Compared with HCs, patients with MSA-P presented significantly higher abnormal proportions of fixation and gaze-holding (17.6% vs. 0%), without-fixation (47.1% vs. 0%), prolonged latency in reflexive saccades (29.4% vs. 5.0%), memory-guided saccades (93.3% vs. 10.0%), and catch-up saccades in smooth-pursuit movement (SPM, 41.2% vs. 0) (all p<0.05). Compared with those with PD, patients with MSA-P presented a significantly higher proportion of catch-up saccades in SPM (41.2% vs. 2.5%, p<0.001). Conclusions MSA-P presented the characteristic of catch-up saccades in SPM in the early stage, which may provide some value in differentiating MSA-P from PD.

Objective:To investigate the clinical, neuropsychological, and neuroimage characteristics in patients with corticobasal syndrome (CBS), and to elucidate the exact diagnosis of CBS patients.Methods:Twelve CBS cases admitted to the Department of Neurology, Huashan Hosiptal,Fudan University from April 2019 to July 2021 were retrospectively enrolled in this study. Those data, including clinical features (demographic data and clinical characteristics of cortical dysfunction and movement disorder), neuropsychological assessment [Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) scales score], brain magnetic resonance imaging (MRI) and multi-mode positron emission tomography (PET)/CT, were collected and carefully reviewed. Exact diagnosis of these patients was given according to the disease diagnosis criteria.Results:Cortical dysfunction and asymmetrical movement disorders were found in all cases, with poor response to levodopa. Patients suffered from cognitive impairment (MMSE score 16.16±9.82, MoCA score 13.44±7.35). The cranial MRI demonstrated significant asymmetric atrophy of frontal and parietal lobes, especially in the pre- and post-central gyrus. Fluorodeoxyglucose PET of 12 patients showed asymmetric frontal lobe and basal ganglia (especially caudate and putamen) hypometabolism (obviously on the contralateral side of the affected limb). Tau PET was implemented in 11 patients and displayed that abnormal tau protein deposition was positive in the cortex and/or subcortex in all patients. Of the 4 cases, who completed amyloid PET, amyloid protein deposition was positive in the cortex of 2 patients. As a result, 6 patients were diagnosed as progressive supranuclear palsy, 1 patient was diagnosed as corticobasal degeneration, and 5 patients were diagnosed as Alzheimer′s disease.Conclusions:The etiology of CBS is heterogeneous. The combination of clinical manifestation, cranial MRI and multi-mode PET/CT helps the differential diagnosis of CBS.

Objective: To explore the relationship between the cognitive impairment and cerebral lesions using 7.0 Tesla magnetic resonance imaging (MRI) in CADASIL patients. Methods: Thirty five CADASIL patients confirmed by serum NOTCH3 gene detection in Peking University First Hospital from June 2015 to November 2018 were enrolled, including 19 males and 16 females, of which the age of onset was (39.28±8.31) years, the age of admission was (44.61±8.42) years, and the course of disease was (5.29±3.65) years. 7.0 Tesla MRI was performed in all the patients. The numbers of lacunar infarcts and microbleeds were counted and the white matter changes were evaluated with age-related white matter rating scale (ARWMrs). Neuropsychological tests were used to evaluate the global cognition, memory, attention, executive function, visuo-spatial function and language function separately. The z score was calculated to evaluate the impairment extent in different scales. The correlation analysis was performed between image changes and neuropsychological tests. Thirty nine normal controls including 20 males and 19 females with age of (42.54±8.92) years were also enrolled, and the same neuropsychological tests were performed in these subjects. Results: The numbers of microbleeds and lacunar infarcts were 13.71±10.29 and 5.89 (8.74). The ARWMrs score was 11.26±5.31. There were 21 patients (60%) presented with cognitive impairment. In comparison with the controls, the patients presented with global cognitive impairment (MMSE score 26.87±3.95 vs 29.08±0.95), including executive (finishing time of Stroops-c: 80.00 (103.75) s vs 67.79 (16.00) s, correct number of Stroops-c: 48.00 (44.26) vs 50.00 (2.00), time of trail making A test: 55.5 (81.5) s vs 39.0 (5.0) s, time of trail making B test: 171.0 (159.5) s vs 103.0 (54.0) s, false number of trail making B test: 0(2) vs 0(0)), memory (number of register memory: 16.13±5.41 vs 21.1±15.21, number of long term recall: 4.78±2.83 vs 7.41±2.24, number of cue recall memory: 4(6) vs 8(4), number of recognition memory: 10.00 (2.25) vs 11.00 (2.00)), attention (number of digital span: 4.42±1.46 vs 7.89±1.65, correct number of symbol digitalis modality test: 38.47±17.29 vs 51.41±13.00), visuo-spatial (Rey-osterrich: 34 (5) vs 36 (2)) and language function (number of semantic fluency: 14.70±5.54 vs 17.46±5.63) (P<0.05). The z score demonstrated impaired executive function, followed by visuo-spatial dysfunction. The number of lacunar infarcts and microbleeds significantly correlated with short term recall memory (r=-0.404, -0.393), long term recall memory (r=-0.375, -0.395), cue memory (r=-0.395, -0.437), Stroops-c time (r=0.412, 0.503), trails making A test time (r=0.400, 0.434)(P<0.05). The number of lacunar infarcts significantly correlated with symbol digitalis modality test (r=-0.475) (P<0.05). The number of microbleeds significantly correlated with digital span test (r=-0.390), Boston naming test (r=-0.382) and semantic fluency (r=-0.449) (P<0.05). ARWMrs score significantly correlated with MMSE score (r=-0.357), rigister memory (r=-0.342), trails making A finishing time (r=0.425), trails making B finishing time (r=0.463) and correct numbers of trails making B (r=0.392) (P<0.05). Conclusions CADASIL presented with global cognitive impairment, especially executive function and visuo-spatial function. The white matter changes, lacunar infarcts and microbleeds affected different cognitive function.