Louis Elan D, Hernandez Nora C, Guy Tomer, Faust Phyllis L
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Peter O'Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Ann Neurol. 2025 Jun 16. doi: 10.1002/ana.27302.
Prospective studies demonstrated that essential tremor is a risk factor for Parkinson's disease. Identifying clinical markers for conversion from essential tremor to essential tremor-Parkinson's disease would be of considerable value. Rest tremor can be present in advanced essential tremor and may be a harbinger of conversion. We examined (1) the brain distribution and severity of Lewy pathology and (2) whether patients met pathologically based criteria for Lewy body disease in relation to (1) the presence and severity of isolated rest tremor and (2) the diagnosis of essential tremor-Parkinson's disease during life.
Two hundred one essential tremor brains in the Essential Tremor Centralized Brain Repository underwent deep clinical phenotyping and complete neuropathological assessment, including assessment of Lewy pathology with α-synuclein immunostaining.
Clinical diagnoses were essential tremor (93.5%), essential tremor with possible Parkinson's disease (3.5%), and essential tremor-Parkinson's disease (3.0%). Among 188 with essential tremor, 90 (47.9%) had rest tremor; 75.6% with rest tremor did not have Lewy pathology and 80% were not assigned pathological diagnoses of Lewy body disease. Rest tremor increased the odds of a pathological diagnosis of Lewy body disease (odds ratios = 1.98-2.73), but its positive predictive value was only 20.0 to 25.6%.
In clinical practice, isolated rest tremor should be viewed as a finding that is associated with increased odds of Parkinson's disease but not, in the large majority of cases, indicative of underlying Lewy body disease. Our quantitative data can be conveyed to patients to provide prognostic information in discussions of risk stratification. ANN NEUROL 2025.
前瞻性研究表明原发性震颤是帕金森病的一个危险因素。识别从原发性震颤转变为原发性震颤-帕金森病的临床标志物具有重要价值。静止性震颤可出现在晚期原发性震颤中，可能是转变的先兆。我们研究了（1）路易小体病理的脑部分布和严重程度，以及（2）患者是否符合基于病理的路易体病标准，这与（1）孤立性静止性震颤的存在和严重程度，以及（2）生前原发性震颤-帕金森病的诊断相关。
对原发性震颤集中脑库中的201例原发性震颤脑进行了深入的临床表型分析和完整的神经病理学评估，包括用α-突触核蛋白免疫染色评估路易小体病理。
临床诊断为原发性震颤（93.5%）、可能患有帕金森病的原发性震颤（3.5%）和原发性震颤-帕金森病（3.0%）。在188例原发性震颤患者中，90例（47.9%）有静止性震颤；有静止性震颤的患者中75.6%没有路易小体病理，80%未被诊断为路易体病。静止性震颤增加了路易体病病理诊断的可能性（优势比=1.98-2.73），但其阳性预测值仅为20.0%至25.6%。
在临床实践中，孤立性静止性震颤应被视为与帕金森病可能性增加相关的一个发现，但在大多数情况下，并不表明存在潜在的路易体病。我们的定量数据可以传达给患者，以便在风险分层讨论中提供预后信息。《神经病学纪事》2025年。
