Article
Clinical Neurology
Yueh-Chi Wu, Elan D. Louis, John Gionco, Ming-Kai Pan, Phyllis L. Faust, Sheng-Han Kuo
Summary: This study found that patients with essential tremor have an increased number of climbing fiber crossings on Purkinje cell dendrites, potentially contributing to abnormal CF wiring and a positive correlation with tremor severity.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Whitney G. Hartstone, Mark H. Brown, Geoffrey C. Kelly, William J. Tate, Sheng-Han Kuo, Andrew J. Dwork, Elan D. Louis, Phyllis L. Faust
Summary: The study did not find significant differences in neuronal density or number in the dentate nucleus between essential tremor cases and controls.
MOVEMENT DISORDERS
(2021)
Article
Neurosciences
John T. Gionco, Whitney G. Hartstone, Regina T. Martuscello, Sheng-Han Kuo, Phyllis L. Faust, Elan D. Louis
Summary: This study found no significant pathological differences in cerebellar cortex between cases of ET and ET-plus, thus not supporting the idea that ET and ET-plus represent distinct clinical-pathological entities.
Article
Neurosciences
Maggie Fagan, Laura Scorr, Doug Bernhardt, Ellen J. Hess, Joel S. Perlmutter, Carlos A. Pardo, H. A. Jinnah
Summary: The study found a significant reduction in Purkinje neuron and torpedo body density in patients with blepharospasm, but no changes in other measures. These results demonstrate subtle neuropathological changes similar to those reported in subjects with cervical dystonia, which may underlie some of the subtle imaging changes reported for blepharospasm.
EXPERIMENTAL NEUROLOGY
(2021)
Review
Neurosciences
Mohamed Fasil Ibrahim, Jessica C. Beevis, Ruth M. Empson
Summary: This article focuses on the role of the cerebellum in Essential Tremor and proposes mechanisms driving abnormal burst firing of deep cerebellar nuclei neurons as a key initiator of tremorgenesis in Essential Tremor. Targetting these mechanisms may generate more effective treatments for Essential Tremor.
Article
Neurosciences
Cecilia Tremblay, Geidy E. Serrano, Nathaniel Dunckley, Nan Zhang, Kimberly L. Fiock, Charles H. Adler, Erika Driver-Dunckley, Shyamal H. Mehta, Holly A. Shill, Thomas G. Beach
Summary: In this study, postmortem cerebellar volume measurements revealed no volume alterations in patients with essential tremor (ET) compared to controls, in contrast to significant cerebellar atrophy in patients with multiple system atrophy (MSA).
JOURNAL OF PARKINSONS DISEASE
(2023)
Article
Medicine, Research & Experimental
Ioannis Mavroudis, Dimitrios Kazis, Foivos Petridis, Simela Chatzikonstantinou, Eleni Karantali, Samuel Njau, Vasiliki Costa, Alin Ciobica, Constantin Trus, Ioana Balmus, Stavros Baloyannis
Summary: The study investigates the morphological changes in the cerebellum of patients with essential tremor, specifically focusing on the Purkinje cells.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2022)
Review
Neurosciences
Adrian Handforth, Eric J. Lang
Summary: The review discusses advances in understanding Purkinje cell complex spike physiology and factors related to tremor, such as coupling of IO neurons, the role of climbing fibers, and the increase in CS synchrony caused by GABA receptor antagonists. Studies suggest that increased CS synchrony may be a potential cause of syndromic essential tremor.
Article
Clinical Neurology
Elan D. D. Louis, Regina T. T. Martuscello, John T. T. Gionco, Whitney G. G. Hartstone, Jessica B. B. Musacchio, Marisa Portenti, Morgan McCreary, Sheng-Han Kuo, Jean-Paul G. Vonsattel, Phyllis L. L. Faust
Summary: In recent years, morphologic changes have been identified in the cerebellar cortex of essential tremor (ET) patients. However, these findings have not been fully understood in the context of other degenerative diseases. In this study, the authors compared degenerative changes in the cerebellar cortex of ET patients with other neurodegenerative disorders and control brains. They found that ET had distinct patterns of degenerative changes compared to other disorders, indicating its unique pathology.
ACTA NEUROPATHOLOGICA
(2023)
Article
Cell Biology
Chao Li, Han Zhang, Kexin Tong, Menghua Cai, Fei Gao, Jia Yang, Yi Xu, Huaishan Wang, Hui Chen, Yu Hu, Wei He, Jianmin Zhang
Summary: This study demonstrates the important role of Thorase in the cerebellum. By deleting Thorase gene in Purkinje cells of the cerebellum, the researchers observed cerebellar degenerative disease-like behavior and significant impairment in motor coordination in Thorase cKO mice. Thorase deletion also led to increased Purkinje neuron apoptosis and cell loss in the cerebellum, along with enhanced expression of inflammatory proteins ASC, IL-1 beta, IL-6 and TNF-alpha, which contribute to the pathogenesis of cerebellar degenerative disease.
Review
Clinical Neurology
Roberto Erro, Cristiano Sorrentino, Maria Russo, Paolo Barone
Summary: This article systematically reviews studies on ET-plus rest tremor and concludes that it is a heterogeneous group of conditions, potentially related to late-stage ET, different disorders, the development of Parkinson's disease, or misdiagnosis of ET. The study highlights the need for further research to solve methodological issues.
JOURNAL OF NEURAL TRANSMISSION
(2022)
Article
Clinical Neurology
Virginie Destrebecq, Gilles Naeije
Summary: This study aimed to assess the prevalence of cognitive impairment in patients with essential tremor (ET) and determine whether it corresponds to cerebellar cognitive affective syndrome (CCAS). Cognitive functions were evaluated using the CCAS-Scale (CCAS-S) in 20 ET patients and 20 matched controls. The results showed that ET patients performed significantly worse than controls, and the CCAS-S scores correlated with age at onset, disease duration, and tremor severity.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Regina T. Martuscello, Karthigayini Sivaprakasam, Whitney Hartstone, Sheng-Han Kuo, Genevieve Konopka, Elan D. Louis, Phyllis L. Faust
Summary: Through RNA sequencing analysis of the cerebellar cortex of essential tremor patients, we identified abnormal expression of genes and pathways related to tremor. These findings suggest that the pathogenesis of essential tremor may involve dysregulation of multiple cellular processes, and that essential tremor may be a family of disorders consisting of different types.
Article
Neuroimaging
Patrick Bedard, Pattamon Panyakaew, Hyun-Joo Cho, Mark Hallett, Silvina G. Horovitz
Summary: This study aimed to understand the differential pathophysiology of essential tremor and dystonic tremor. The results showed altered functional connectivity in the cerebellum for essential tremor patients, higher fractional anisotropy in the middle cerebellar peduncle for dystonic tremor patients, and reduced mean diffusivity in the cerebellum for both tremor groups. The findings suggest that the cerebellum is affected differently in both essential tremor and dystonic tremor.
NEUROIMAGE-CLINICAL
(2022)
Article
Clinical Neurology
Luca Angelini, Giulia Paparella, Alessandro De Biase, Annalisa Maraone, Matteo Panfili, Isabella Berardelli, Antonio Cannavacciuolo, Antonella Di Vita, Roberta Margiotta, Giovanni Fabbrini, Alfredo Berardelli, Matteo Bologna
Summary: This study investigated the progression of Essential Tremor (ET) manifestations through clinical and neurophysiological evaluation. The results showed that ET progression is characterized by the spread of tremor in multiple body segments and the emergence of soft signs. Female sex, absence of family history, and rest tremor at baseline were identified as predictive factors of worse disease progression.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)