Jellinger Kurt A
Institute of Clinical Neurobiology, Kenyongasse 18, 1070, Vienna, Austria.
Acta Neuropathol. 2008 Jul;116(1):1-16. doi: 10.1007/s00401-008-0406-y. Epub 2008 Jul 1.
Sporadic Parkinson disease (sPD) or brainstem-predominant type of Lewy body (LB) disease, and dementia with Lewy bodies (DLB), the two most frequent alpha-synucleinopathies, are progressive multisystem neurodegenerative disorders with widespread occurrence of alpha-synuclein (AS) deposits in the central, peripheral, and autonomic nervous system. For both LB-related disorders, staging/classification systems based on semiquantitative assessment of the distribution and progression pattern of Lewy-related/AS pathology are used that are considered to be linked to clinical dysfunctions. In PD, a six-stage system (Braak) has been suggested to indicate a predictable sequence of lesions with ascending progression from medullary and olfactory nuclei to the cortex, the first two presymptomatic stages being related to incidental LB disease, stages 3 and 4 with motor symptoms, and the last two (cortical) stages may be frequently associated with cognitive impairment. DLB, according to consensus pathologic guidelines, by semiquantitative scoring of AS pathology (LB density and distribution) in specific brain regions, is distinguished into three phenotypes (brainstem, transitional/limbic, and diffuse neocortical), also considering concomitant Alzheimer-related pathology. Retrospective clinico-pathologic studies, although largely confirming the staging system, particularly for younger onset PD with long duration, have shown that between 6.3 and 43% of the cases did not follow the proposed caudo-rostral progression pattern of AS pathology. There was sparing of medullary nuclei in 7-8.3% of clinically manifested PD cases with AS inclusions in midbrain and cortex corresponding to Braak stages 4 and 5, whereas mild parkinsonian symptoms were already observed in stages 2 and 3. There is considerable clinical and pathologic overlap between PD (with or without dementia) and DLB, corresponding to Braak LB stages 5 and 6, both frequently associated with variable Alzheimer-type pathology. Dementia often does not correlate with progressed stages of LB pathology, but may also be related to concomitant Alzheimer lesions or mixed pathologies. There is no relationship between Braak LB stage and the clinical severity of PD, and the predictive validity of this concept is doubtful, since large unselected, retrospective autopsy series in 30-55% of elderly subjects with widespread AS/Lewy-related pathology (Braak stages 5 and 6) reported no definite neuropsychiatric symptoms, suggesting considerable cerebral compensatory mechanisms. Applying the original criteria to large dementia samples, 49% of positive cases were not classifiable. Therefore, modified criteria for the categorization of Lewy-related pathology were proposed for patients with a history of dementia. The causes and molecular basis of the not infrequent deviations from the current staging schemes of AS pathology in PD and DLB, its relation to the onset of classical parkinsonian symptoms and for the lack of definite clinical deficits despite widespread AS pathology in the nervous system remain to be elucidated.
散发性帕金森病(sPD)或脑干为主型路易体(LB)病以及路易体痴呆(DLB)是两种最常见的α-突触核蛋白病,它们是进行性多系统神经退行性疾病,α-突触核蛋白(AS)在中枢、外周和自主神经系统广泛沉积。对于这两种与LB相关的疾病,采用了基于对路易体相关/AS病理分布和进展模式进行半定量评估的分期/分类系统,这些系统被认为与临床功能障碍有关。在帕金森病中,有人提出了一个六阶段系统(Braak分期),以表明病变从延髓和嗅核到皮质呈上升进展的可预测顺序,前两个无症状阶段与偶发性LB病有关,第3和第4阶段出现运动症状,最后两个(皮质)阶段可能经常与认知障碍相关。根据共识病理指南,通过对特定脑区的AS病理(LB密度和分布)进行半定量评分,DLB可分为三种表型(脑干型、过渡/边缘型和弥漫性新皮质型),同时也考虑到伴随的阿尔茨海默病相关病理。回顾性临床病理研究虽然在很大程度上证实了分期系统,特别是对于病程较长的年轻发病帕金森病,但显示6.3%至43%的病例并未遵循所提出的AS病理从尾端向头端的进展模式。在临床诊断为帕金森病且中脑和皮质有AS包涵体、对应Braak分期4和5期的病例中,7%至8.3%的病例延髓核未受累,而在2期和3期已经观察到轻度帕金森症状。帕金森病(伴或不伴痴呆)和DLB之间存在相当大的临床和病理重叠,对应Braak LB分期5和6期,两者都经常与不同类型的阿尔茨海默病病理相关。痴呆往往与LB病理的进展阶段无关,但也可能与伴随的阿尔茨海默病病变或混合病理有关。Braak LB分期与帕金森病的临床严重程度之间没有关系,这一概念的预测有效性值得怀疑,因为在30%至55%有广泛AS/路易体相关病理(Braak分期5和6期)的老年受试者的大型非选择性回顾性尸检系列中,报告没有明确的神经精神症状,提示存在相当大的脑代偿机制。将原始标准应用于大型痴呆样本时,49%的阳性病例无法分类。因此,针对有痴呆病史的患者,提出了修订后的路易体相关病理分类标准。帕金森病和DLB中AS病理与当前分期方案出现不常见偏差的原因和分子基础、其与经典帕金森症状发作的关系以及尽管神经系统存在广泛的AS病理但缺乏明确临床缺陷的原因仍有待阐明。