@article{2156aa4f23af4693b9d85f5ec61820d4,
title = "Climbing fiber-Purkinje cell synaptic pathology across essential tremor subtypes",
abstract = "Background: Essential tremor (ET) is heterogeneous in nature and cases may be subdivided based on clinical features. ET patients may thus be subdivided by age of onset, family history of tremor, and presence of head tremor. We recently described climbing fiber-Purkinje cell (CF-PC) synaptic abnormalities in ET; however, these CF pathological features have not been studied across different ET subtypes. Objectives: To explore whether these CF-PC synaptic abnormalities differ across ET subtypes. Methods: We studied two climbing fiber (CF-PC) synaptic pathologies (CF synaptic density and percentage of CFs in the parallel fiber [PF] territory) in the cerebella of 60 ET cases with a range of clinical presentations and 30 age-matched controls. Results: Compared to controls, ET cases had lower CF synaptic density and a higher percentage of CFs in the PF territory. ET cases with tremor onset <50 years and tremor onset ≥ 50 years did not differ significantly with respect to CF synaptic density and percentage of CFs in the PF territory. Similar results were found when comparing familial vs. sporadic ET cases, and ET cases with head tremor vs. those without head tremor. Among all ET cases, lower CF synaptic density was associated with lower PC counts and higher torpedo counts. In addition, higher percentage of CFs in the PF territory was associated with lower PC counts and higher torpedo counts. Conclusions: These findings support the notion that changes in the distribution of CF-PC synapses are broadly part of the neurodegenerative process in the ET cerebellum.",
keywords = "Cerebellum, Climbing fiber, Essential tremor, Neurodegenerative, Pathology, Purkinje cell",
author = "Danielle Lee and Gan, {Shi Rui} and Faust, {Phyllis L.} and Louis, {Elan D.} and Kuo, {Sheng Han}",
note = "Funding Information: Dr. Kuo has received funding from the National Institutes of Health : NINDS # K08 NS083738 , the Louis V. Gerstner Jr. Scholar Award, the Parkinson's Disease Foundation , and the International Essential Tremor Foundation . Dr. Faust has received funding from the National Institutes of Health : NINDS # R21 NS077094 , NINDS # R01 NS085136 (principal investigator) and NINDS # RO1 NS088257 (principal investigator). Dr. Louis has received research support from the National Institutes of Health : NINDS # R01 NS094607 (principal investigator), NINDS # R01 NS085136 (principal investigator), NINDS # R01 NS073872 (principal investigator), NINDS # R01 NS085136 (principal investigator) and NINDS # R01 NS088257 (principal investigator). He has also received support from the Claire O'Neil Essential Tremor Research Fund (Yale University). Funding Information: Dr. Kuo has received funding from the National Institutes of Health: NINDS #K08 NS083738, the Louis V. Gerstner Jr. Scholar Award, the Parkinson's Disease Foundation, and the International Essential Tremor Foundation. Dr. Faust has received funding from the National Institutes of Health: NINDS #R21 NS077094, NINDS #R01 NS085136 (principal investigator) and NINDS #RO1 NS088257 (principal investigator). Dr. Louis has received research support from the National Institutes of Health: NINDS #R01 NS094607 (principal investigator), NINDS #R01 NS085136 (principal investigator), NINDS #R01 NS073872 (principal investigator), NINDS #R01 NS085136 (principal investigator) and NINDS #R01 NS088257 (principal investigator). He has also received support from the Claire O'Neil Essential Tremor Research Fund (Yale University). Publisher Copyright: {\textcopyright} 2018 Elsevier Ltd",
year = "2018",
month = jun,
doi = "10.1016/j.parkreldis.2018.02.032",
language = "English (US)",
volume = "51",
pages = "24--29",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
publisher = "Elsevier BV",
}