Leveraging molecular biomarkers to make the common diagnosis in the uncommon patient.

Leveraging molecular biomarkers to make the common diagnosis in the uncommon patient.
复制标题

DOI:
10.1016/j.jneuroim.2021.577474
复制
发表时间:
2021-03-15
影响因子:
3.3
通讯作者:
Ances BM
Ances BM
中科院分区:
医学4区
文献类型:
--
作者:
Day GS;Gordon BA;Bucelli RC;Perrin RJ;Lopez-Chiriboga AS;Ances BM

文献摘要

参考文献

被引文献

相似文献

自身免疫性脑炎(AE)恢复期患者易复发的因素在很大程度上是未知的,这使得区分可能受益于其他免疫调节治疗的复发症状患者与其他损伤原因患者的努力变得复杂。我们报告一例富含亮氨酸的胶质瘤失活的自身抗体1的AE患者,具有典型的表现,但不典型的过程复杂的难治性精神病和进行性认知功能下降。我们利用新出现的分子PET生物标志物,包括[18 F]florbetapir(淀粉样蛋白)和[18 F]flortaucipir AV 45(tau)PET神经成像来评估损伤的常见神经退行性原因。对患者进行随访直至死亡,并进行脑尸检。在我们的复发性、治疗难治性认知功能减退患者中,神经影像学或脑脊液分析均未观察到活动性炎症的证据。[18 F]Florbetapir和[18 F]flortaucipir在大脑皮质中的保留增加,其模式与症状性阿尔茨海默病一致。停止免疫调节治疗,并向患者和家属提供适当的咨询。患者在[18 F]flortaucipir PET神经成像后2.4个月死亡。脑尸检证实了阿尔茨海默病的典型变化,没有活动性炎症或AE后遗症的证据,确定阿尔茨海默病是该患者复发症状的可能原因。AE后可能出现年龄相关神经退行性疾病的症状,特别是在神经退行性痴呆疾病更常见的老年患者中。分子生物标志物可能有助于评估复发症状和体征的治疗难治性患者,影响管理。
The factors that predispose to relapse in patients recovering with autoimmune encephalitis (AE) are largely unknown, complicating efforts to distinguish patients with resurgent symptoms who may benefit from additional immune-modulating therapies from those with other causes of impairment. We report a patient with AE with leucine-rich glioma-inactivated 1 autoantibodies with a typical presentation, but atypical course complicated by treatment-refractory psychoses and progressive cognitive decline. We leveraged emergent molecular PET biomarkers, including [18F]florbetapir (amyloid) and [18F]flortaucipir AV45 (tau) PET neuroimaging to evaluate for common neurodegenerative causes of impairment. The patient was followed until death and a brain autopsy performed. No evidence of active inflammation was observed on neuroimaging or cerebrospinal fluid analyses in our patient with resurgent, treatment-refractory cognitive decline. [18F]Florbetapir and [18F]flortaucipir retention were increased in cerebral cortices in a pattern consistent with symptomatic Alzheimer disease. Immunomodulatory therapies were stopped, and appropriate counseling provided to the patient and family. The patient died 2.4 months following [18F]flortaucipir PET neuroimaging. Brain autopsy confirmed changes typical of Alzheimer disease without evidence of active inflammation or sequelae of AE, establishing Alzheimer disease as the likely cause of resurgent symptoms in this patient. Symptoms of age-related neurodegenerative illnesses may emerge following AE, particularly in older patients in whom neurodegenerative dementing illnesses are more common. Molecular biomarkers may aid in the evaluation of treatment-refractory patients with resurgent symptoms and signs, influencing management.
DOI: 10.1016/j.jalz.2018.07.216
发表时间: 2019-01
期刊: Alzheimer's & dementia : the journal of the Alzheimer's Association
影响因子: --
作者:
Rajan KB;Weuve J;Barnes LL;Wilson RS;Evans DA
通讯作者: Evans DA
DOI: 10.1212/wnl.0000000000005064
发表时间: 2018-03-06
期刊: NEUROLOGY
影响因子: 9.9
作者:
Day, Gregory S.;Gordon, Brian A.;Ances, Beau M.
通讯作者: Ances, Beau M.
DOI: 10.1136/jnnp-2018-320168
发表时间: 2019-09-01
影响因子: 11
作者:
Loane, Clare;Argyropoulos, Georgios P. D.;Butler, Christopher R.
通讯作者: Butler, Christopher R.
DOI: 10.1093/brain/aws082
发表时间: 2012-05-01
期刊: BRAIN
影响因子: 14.5
作者:
Bien, Christian G.;Vincent, Angela;Bauer, Jan
通讯作者: Bauer, Jan
DOI: 10.1016/s1474-4422(15)00401-9
发表时间: 2016-04
期刊: The Lancet. Neurology
影响因子: --
作者:
Graus F;Titulaer MJ;Balu R;Benseler S;Bien CG;Cellucci T;Cortese I;Dale RC;Gelfand JM;Geschwind M;Glaser CA;Honnorat J;Höftberger R;Iizuka T;Irani SR;Lancaster E;Leypoldt F;Prüss H;Rae-Grant A;Reindl M;Rosenfeld MR;Rostásy K;Saiz A;Venkatesan A;Vincent A;Wandinger KP;Waters P;Dalmau J
通讯作者: Dalmau J