Division of Neuropathology, Lifespan Academic Medical Center, The Warren Alpert Medical School, Brown University, Providence, RI, USA.
Boston University Alzheimer's Disease Research Center and CTE Center, Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
Acta Neuropathol. 2024 Feb 26;147(1):45. doi: 10.1007/s00401-024-02690-5.
Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease caused by repetitive head impacts (RHI) and pathologically defined as neuronal phosphorylated tau aggregates around small blood vessels and concentrated at sulcal depths. Cross-sectional studies suggest that tau inclusions follow a stereotyped pattern that begins in the neocortex in low stage disease, followed by involvement of the medial temporal lobe and subcortical regions with significant neocortical burden in high stage CTE. Here, we define a subset of brain donors with high stage CTE and with a low overall cortical burden of tau inclusions (mean semiquantitative value ≤1) and classify them as cortical-sparing CTE (CSCTE). Of 620 brain donors with pathologically diagnosed CTE, 66 (11%) met criteria for CSCTE. Compared to typical high stage CTE, those with CSCTE had a similar age at death and years of contact sports participation and were less likely to carry apolipoprotein ε4 (p < 0.05). CSCTE had less overall tau pathology severity, but a proportional increase of disease burden in medial temporal lobe and brainstem regions compared to the neocortex (p's < 0.001). CSCTE also had lower prevalence of comorbid neurodegenerative disease. Clinically, CSCTE participants were less likely to have dementia (p = 0.023) and had less severe cognitive difficulties (as reported by informants using the Functional Activities Questionnaire (FAQ); p < 0.001, meta-cognitional index T score; p = 0.002 and Cognitive Difficulties Scale (CDS); p < 0.001,) but had an earlier onset age of behavioral (p = 0.006) and Parkinsonian motor (p = 0.013) symptoms when compared to typical high stage CTE. Other comorbid tauopathies likely contributed in part to these differences: when cases with concurrent Alzheimer dementia or frontal temporal lobar degeneration with tau pathology were excluded, differences were largely retained, but only remained significant for FAQ (p = 0.042), meta-cognition index T score (p = 0.014) and age of Parkinsonian motor symptom onset (p = 0.046). Overall, CSCTE appears to be a distinct subtype of high stage CTE with relatively greater involvement of subcortical and brainstem regions and less severe cognitive symptoms.
慢性创伤性脑病(CTE)是一种由反复头部撞击(RHI)引起的神经退行性疾病,病理上定义为小血管周围神经元磷酸化 tau 聚集物,并集中在脑沟深部。横断面研究表明,tau 包含物遵循一种刻板模式,在疾病早期阶段从新皮质开始,随后涉及内侧颞叶和皮质下区域,在高阶段 CTE 中具有显著的新皮质负担。在这里,我们定义了一组具有高阶段 CTE 和 tau 包含物低总皮质负担(平均半定量值≤1)的脑捐献者,并将其归类为皮质保留性 CTE(CSCTE)。在有病理诊断 CTE 的 620 名脑捐献者中,有 66 名(11%)符合 CSCTE 的标准。与典型的高阶段 CTE 相比,CSCTE 患者的死亡年龄和接触性运动年限相似,且携带载脂蛋白 E4 的可能性较小(p<0.05)。CSCTE 的总体 tau 病理学严重程度较低,但与新皮质相比,内侧颞叶和脑干区域的疾病负担呈比例增加(p<0.001)。CSCTE 还具有较低的共病神经退行性疾病患病率。临床上,CSCTE 参与者患痴呆症的可能性较小(p=0.023),认知困难程度较轻(根据知情者使用功能活动问卷(FAQ)报告;p<0.001,元认知指数 T 评分;p=0.002 和认知困难量表(CDS);p<0.001),但与典型的高阶段 CTE 相比,行为(p=0.006)和帕金森运动(p=0.013)症状的发病年龄更早。其他共病 tau 病可能部分促成了这些差异:当排除同时患有阿尔茨海默病痴呆或伴有 tau 病理学的额颞叶变性的病例时,差异基本保留,但仅在 FAQ(p=0.042)、元认知指数 T 评分(p=0.014)和帕金森运动症状发病年龄(p=0.046)方面仍有统计学意义。总的来说,CSCTE 似乎是一种高阶段 CTE 的独特亚型,其皮质下和脑干区域的受累相对较大,认知症状较轻。