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E. Louis, J. Ferreira (2010)
How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremorMovement Disorders, 25
U. Rüb, L. Schöls, H. Paulson, G. Auburger, P. Kermer, J. Jen, K. Seidel, H. Korf, T. Deller (2013)
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7Progress in Neurobiology, 104
Zareema Mangaru, Elsaid Salem, Matthew Sherman, Sarah Dine, Ankur Bhambri, J. Brumberg, E. Richfield, L. Gabel, R. Ramos (2013)
Neuronal Migration Defect of the Developing Cerebellar Vermis in Substrains of C57BL/6 Mice: Cytoarchitecture and Prevalence of Molecular Layer HeterotopiaDevelopmental Neuroscience, 35
O. Doğu, S. Sevim, H. Çamdeviren, T. Sasmaz, R. Bugdayci, M. Aral, H. Kaleağası, S. Un, Elan Louis (2003)
Prevalence of essential tremorNeurology, 61
André Goffinet, Kwok-Fai So, Miyuki Yamamoto, Michael Edwards, V. Caviness (1984)
Architectonic and hodological organization of the cerebellum in reeler mutant mice.Brain research, 318 2
A. Rajput, Christopher Robinson, M. Rajput, S. Robinson, A. Rajput (2012)
Essential tremor is not dependent upon cerebellar Purkinje cell loss.Parkinsonism & related disorders, 18 5
Alexander Bottini, R. Gatti, M. Wirenfeldt, H. Vinters (2012)
Heterotopic Purkinje cells in ataxia‐telangiectasiaNeuropathology, 32
M. Bareš, O. Lungu, I. Husárová, T. Gescheidt (2010)
Predictive Motor Timing Performance Dissociates Between Early Diseases of the Cerebellum and Parkinson's DiseaseThe Cerebellum, 9
J. Benito‐León, F. Bermejo-Pareja, J. Morales, S. Vega, J. Molina (2003)
Prevalence of essential tremor in three elderly populations of central SpainMovement Disorders, 18
E. Louis, P. Faust, J. Vonsattel, L. Honig, A. Rajput, C. Robinson, A. Rajput, R. Pahwa, K. Lyons, G. Ross, Sarah Borden, C. Moskowitz, A. Lawton, N. Hernandez (2007)
Neuropathological changes in essential tremor: 33 cases compared with 21 controls.Brain : a journal of neurology, 130 Pt 12
M. Shahbazian, H. Orr, H. Zoghbi (2001)
Reduction of Purkinje Cell Pathology in SCA1 Transgenic Mice by p53 DeletionNeurobiology of Disease, 8
G. Gitchel, P. Wetzel, M. Baron (2013)
Slowed Saccades and Increased Square Wave Jerks in Essential TremorTremor and Other Hyperkinetic Movements, 3
L. Passamonti, A. Cerasa, A. Quattrone (2012)
Neuroimaging of Essential Tremor: What is the Evidence for Cerebellar Involvement?Tremor and Other Hyperkinetic Movements, 2
M. Yamada, Toshiya Sato, S. Tsuji, H. Takahashi (2007)
CAG repeat disorder models and human neuropathology: similarities and differencesActa Neuropathologica, 115
C. Singer, J. Sanchez-Ramos, W. Weiner (2004)
Gait abnormality in essential tremorMovement Disorders, 9
E. Louis, Rachel Babij, Karen Ma, Etty Cortes, J. Vonsattel (2013)
Essential Tremor Followed by Progressive Supranuclear Palsy: Postmortem Reports of 11 PatientsJournal of Neuropathology & Experimental Neurology, 72
E. Louis, D. Shungu, S. Chan, X. Mao, E. Jurewicz, D. Watner (2002)
Metabolic abnormality in the cerebellum in patients with essential tremor: a proton magnetic resonance spectroscopic imaging studyNeuroscience Letters, 333
E. Louis (2016)
Linking Essential Tremor to the Cerebellum: Neuropathological EvidenceThe Cerebellum, 15
A. Quattrone, A. Cerasa, D. Messina, G. Nicoletti, G. Hagberg, L. Lemieux, F. Novellino, P. Lanza, G. Arabia, M. Salsone (2008)
Essential Head Tremor Is Associated with Cerebellar Vermis Atrophy: A Volumetric and Voxel-Based Morphometry MR Imaging StudyAmerican Journal of Neuroradiology, 29
S. Kuo, Jie Wang, William Tate, Ming-Kai Pan, G. Kelly, Jesús Gutierrez, Etty Cortes, J. Vonsattel, E. Louis, P. Faust (2017)
Cerebellar Pathology in Early Onset and Late Onset Essential TremorThe Cerebellum, 16
Christopher Gomez, Randall Thompson, J. Gammack, Susan Perlman, W. Dobyns, C. Truwit, David Zee, H. Clark, John Anderson (1997)
Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onsetAnnals of Neurology, 42
Elan Louis (2013)
The primary type of tremor in essential tremor is kinetic rather than postural: cross‐sectional observation of tremor phenomenology in 369 casesEuropean Journal of Neurology, 20
A. Koeppen, R. Ramirez, S. Bjork, P. Bauer, Paul Feustel (2013)
The Reciprocal Cerebellar Circuitry in Human Hereditary AtaxiaThe Cerebellum, 12
J. Benito‐León, A. Labiano-Fontcuberta (2016)
Linking Essential Tremor to the Cerebellum: Clinical EvidenceThe Cerebellum, 15
Chi-Ying Lin, E. Louis, P. Faust, A. Koeppen, J. Vonsattel, S. Kuo (2014)
Abnormal climbing fibre-Purkinje cell synaptic connections in the essential tremor cerebellum.Brain : a journal of neurology, 137 Pt 12
B. Köster, G. Deuschl, M. Lauk, J. Timmer, B. Guschlbauer, C. Lücking (2002)
Essential tremor and cerebellar dysfunction: abnormal ballistic movementsJournal of Neurology, Neurosurgery & Psychiatry, 73
R. Nakamura, K. Kurita, T. Kawanami, T. Kato (1999)
An immunohistochemical study of Purkinje cells in a case of hereditary cerebellar cortical atrophyActa Neuropathologica, 97
Claire Symanski, H. Shill, B. Dugger, J. Hentz, C. Adler, S. Jacobson, E. Driver-Dunckley, T. Beach (2014)
Essential tremor is not associated with cerebellar Purkinje cell lossMovement Disorders, 29
S. Kuo, Cordelia Erickson‐Davis, A. Gillman, P. Faust, J. Vonsattel, E. Louis (2010)
Increased number of heterotopic Purkinje cells in essential tremorJournal of Neurology, Neurosurgery & Psychiatry, 82
J. Harasymiw, Pamela Bean (2001)
Identification of heavy drinkers by using the early detection of alcohol consumption score.Alcoholism, clinical and experimental research, 25 2
E. Louis, Rachel Babij, Michelle Lee, Etty Cortes, J. Vonsattel (2013)
Quantification of cerebellar hemispheric purkinje cell linear density: 32 ET cases versus 16 controlsMovement Disorders, 28
O Dogu, S Sevim, H Camdeviren, T Sasmaz, R Bugdayci, M Aral (2003)
Prevalence of essential tremor: door-to-door neurologic exams in Mersin ProvinceTurkey Neurology, 61
H. Stolze, Gesche Petersen, J. Raethjen, R. Wenzelburger, G. Deuschl (2001)
The gait disorder of advanced essential tremor.Brain : a journal of neurology, 124 Pt 11
Qing Yang, Y. Hashizume, Mari Yoshida, Y. Wang, Y. Goto, N. Mitsuma, K. Ishikawa, H. Mizusawa (2000)
Morphological Purkinje cell changes in spinocerebellar ataxia type 6Acta Neuropathologica, 100
A. Cerasa, A. Quattrone (2016)
Linking Essential Tremor to the Cerebellum—Neuroimaging EvidenceThe Cerebellum, 15
S. Kuo, Guomei Tang, E. Louis, Karen Ma, R. Babji, Matthew Balatbat, Etty Cortes, J. Vonsattel, Ai Yamamoto, D. Sulzer, P. Faust (2013)
Lingo-1 expression is increased in essential tremor cerebellum and is present in the basket cell pinceauActa Neuropathologica, 125
Cordelia Erickson‐Davis, P. Faust, J. Vonsattel, Sachin Gupta, L. Honig, E. Louis (2010)
"Hairy Baskets" Associated With Degenerative Purkinje Cell Changes in Essential TremorJournal of Neuropathology and Experimental Neurology, 69
E. Louis, S. Frucht, Eileen Rios (2009)
Intention tremor in essential tremor: Prevalence and association with disease durationMovement Disorders, 24
Matthew Choe, Etty Cortes, J. Vonsattel, S. Kuo, P. Faust, E. Louis (2016)
Purkinje cell loss in essential tremor: Random sampling quantification and nearest neighbor analysisMovement Disorders, 31
S. Sharifi, A. Nederveen, J. Booij, A. Rootselaar (2014)
Neuroimaging essentials in essential tremor: A systematic reviewNeuroImage : Clinical, 5
C. Helmchen, A. Hagenow, J. Miesner, A. Sprenger, H. Rambold, R. Wenzelburger, W. Heide, G. Deuschl (2003)
Eye movement abnormalities in essential tremor may indicate cerebellar dysfunction.Brain : a journal of neurology, 126 Pt 6
Rachel Babij, Michelle Lee, Etty Cortes, J. Vonsattel, P. Faust, E. Louis (2013)
Purkinje cell axonal anatomy: quantifying morphometric changes in essential tremor versus control brains.Brain : a journal of neurology, 136 Pt 10
M. Hoskovcová, O. Ulmanová, Otakar Sprdlík, T. Sieger, Jana Nováková, R. Jech, E. Růžička (2013)
Disorders of Balance and Gait in Essential Tremor Are Associated with Midline Tremor and AgeThe Cerebellum, 12
Catherine Stoodley, J. Schmahmann (2009)
Functional topography in the human cerebellum: A meta-analysis of neuroimaging studiesNeuroImage, 44
Essential tremor (ET) is among the most common neurological diseases. Postmortem studies have noted a series of pathological changes in the ET cerebellum. Heterotopic Purkinje cells (PCs) are those whose cell body is mis-localized in the molecular layer. In neurodegenerative settings, these are viewed as a marker of the progression of neuronal degeneration. We (1) quantify heterotopias in ET cases vs. controls, (2) compare ET cases to other cerebellar degenerative conditions (spinocerebellar ataxias (SCAs) 1, 2, 3, and 6), (3) compare these SCAs to one another, and (4) assess heterotopia within the context of associated PC loss in each disease. Heterotopic PCs were quantified using a standard LH&E-stained section of the neocerebellum. Counts were normalized to PC layer length (n-heterotopia count). It is also valuable to consider PC counts when assessing heterotopia, as loss of PCs extends both to normally located as well as heterotopic PCs. Therefore, we divided n-heterotopias by PC counts. There were 96 brains (43 ET, 31 SCA [12 SCA1, 7 SCA2, 7 SCA3, 5 SCA6], and 22 controls). The median number of n-heterotopias in ET cases was two times higher than that of the controls (2.6 vs. 1.2, p < 0.05). The median number of n-heterotopias in the various SCAs formed a spectrum, with counts being highest in SCA3 and SCA1. In analyses that factored in PC counts, ET had a median n-heterotopia/Purkinje cell count that was three times higher than the controls (0.35 vs. 0.13, p < 0.01), and SCA1 and SCA2 had counts that were 5.5 and 11 times higher than the controls (respective p < 0.001). The median n-heterotopia/PC count in ET was between that of the controls and the SCAs. Similarly, the median PC count in ET was between that of the controls and the SCAs; the one exception was SCA3, in which the PC population is well known to be preserved. Heterotopia is a disease-associated feature of ET. In comparison, several of the SCAs evidenced even more marked heterotopia, although a spectrum existed across the SCAs. The median n-heterotopia/PC count and median PC in ET was between that of the controls and the SCAs; hence, in this regard, ET could represent an intermediate state or a less advanced state of spinocerebellar atrophy.
The Cerebellum – Springer Journals
Published: Aug 8, 2017
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