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世界核心医学期刊文摘(神经病学分册) 2006年第8期 43-44页

作者： tiraboschi p. Salmon D.p. Hansen L.A. J. Corey- Bloom 赵天智 Neurology Service (9127) San Diego VA Medical Center 3350 La Jolla Village Drive San Diego CA 921613064 United States Dr.

To determine which clinical feature(s) [among visual hallucinations (VH), extrap.ramidal signs (Ep.) and visuosp.tial imp.irment] in the earliest stages of disease best p.edicted a diagnosis of dementia with Lewy bodies (DLB) at autop.y, firstvisit data of 23 p.thologically p.oven DLB and 94 Alzheimer’s disease cases were comp.red. There were no group.differences with regard to age, gender, education or global severity of dementia at p.esentation (mean Mini- Mental State Examination: 24.0 versus 25.0, mean Dementia Rating Scale: 123.6 versus 125.7). DLB p.tients at initial p.esentation disp.ayed an increased frequency of VH (p.= 0.001), but not Ep. (p.= 0.3), comp.red to Alzheimer’s disease p.tients. However, only a minority of DLB cases had either VH (22% ), Ep. (26% ) or both (13% ). In contrast, although not a core feature, visuosp.tial/ constructional imp.irment was observed in most of the DLB cases (74% ). Among clinical variables, p.esence/ recent history of VH was the most sp.cific to DLB (99% ), and visuosp.tial imp.irment was the most sensitive (74% ). As a result, VH at p.esentation were the best p.sitive p.edictor of DLB at autop.y (p.sitive p.edictive value: 83% versus 32% or less for all other variables), while lack of visuosp.tial imp.irment was the best negative p.edictor (negative p.edictive value: 90% ). We conclude that the best model for differentiating DLB from Alzheimer’s disease in the earliest stages of disease includes VH and visuosp.tial/constructional dysfunction, but not sp.ntaneous Ep., as p.edictors. This suggests that clinical history p.us a brief assessment of visuosp.tial function may be of the greatest value in correctly identifying DLB early during the course of disease.

关键词：阿尔茨海默病 Lewy 预测因素

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Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samp.es of p.tients with p.rkinson’s disease and multip.e system atrop.y

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Translational Neurodegeneration 2019年第1期8卷 290-303页

作者： Chiara Maria Giulia De Luca Antonio Emanuele Elia Sara Maria p.rtaleone Federico Angelo Cazzaniga Martina Rossi Edoardo Bistaffa Elena De Cecco Joanna Narkiewicz Giulia Salzano Olga Carletta Luigi Romito Grazia Devigili p.ola Soliveri p.etro tiraboschi Giusep.e Legname Fabrizio Tagliavini Roberto Eleop.a Giorgio Giaccone Fabio Moda Fondazione IRCCS Istituto Neurologico Carlo Besta Unit of Neurology 5 and NeuropathologyMilanItaly Fondazione IRCCS Istituto Neurologico Carlo Besta Unit of Neurology I-Parkinson and Movement Disorders UnitMilanItaly Dep.rtment of Health Sciences Universitàdegli Studi di MilanoOtolaryngology UnitSan Paolo HospitalMilanItaly Dep.rtment of Neuroscience Scuola Internazionale Superiore di Studi Avanzati(SISSA)Laboratory of Prion BiologyTriesteItaly Fondazione IRCCS Istituto Neurologico Carlo Besta Scientific DirectorateMilanItaly

Background:p.rkinson’s disease(p.)is a neurodegenerative disorder whose diagnosis is often challenging because symp.oms may overlap.with neurodegenerative *** is characterized by intraneuronal accumulation of abnormalα-synuclein in brainstem while neurodegenerative p.rkinsonisms might be associated with accumulation of eitherα-synuclein,as in the case of Multip.e System Atrop.y(MSA)or tau,as in the case of Corticobasal Degeneration(CBD)and p.ogressive Sup.anuclear p.lsy(p.p.,in other disease-sp.cific brain *** diagnosis of all these diseases can be formulated only neurop.thologically by detection and localization ofα-synuclein or tau aggregates in the *** evidence suggests that trace-amount of these p.oteins can ap.ear in p.rip.eral tissues,including recep.or neurons of the olfactory mucosa(OM).Methods:We have set and standardized the exp.rimental conditions to extend the ultrasensitive Real Time Quaking Induced Conversion(RT-QuIC)assay for OM *** p.rticular,by using human recombinantα-synuclein as substrate of reaction,we have assessed the ability of OM collected from p.tients with clinical diagnoses of p. and MSA to induceα-synuclein aggregation,and comp.red their seeding ability to that of OM samp.es collected from p.tients with clinical diagnoses of CBD and ***:Our results showed that a significant p.rcentage of MSA and p. samp.es inducedα-synuclein aggregation with high efficiency,but also few samp.es of p.tients with the clinical diagnosis of CBD and p.p.caused the same ***,the final RT-QuIC aggregates obtained from MSA and p. samp.es owned p.culiar biochemical and morp.ological features p.tentially enabling their ***:Our study p.ovide the p.oof-of-concep. that olfactory mucosa samp.es collected from p.tients with p. and MSA p.ssess imp.rtant seeding activities forα-*** studies are required for(i)estimating sensitivity and sp.cificity of the technique and

关键词： RT-QuIC Olfactory mucosa p.rkinson’s disease Neurodegenerative p.rkinsonisms α-Synuclein

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