title: Cerebellar Pathology in Familial vs. Sporadic Essential Tremor.
abstract: Familial and sporadic essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes has yet to be studied. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes, a host of associated axonal changes, heterotopic PCs, and hairy basket ratings) in 60 ET cases and 30 controls. Familial ET was defined using both liberal criteria (n = 27) and conservative criteria (n = 20). When compared with controls, ET cases had lower PC counts, more torpedoes, more heterotopic PCs, a higher hairy basket rating, an increase in PC axonal collaterals, an increase in PC thickened axonal profiles, and an increase in PC axonal branching. Familial and sporadic ET had similar postmortem changes, with few exceptions, regardless of the definition criteria. The PC counts were marginally lower in familial than sporadic ET (respective p values = 0.059 [using liberal criteria] and 0.047 [using conservative criteria]). The PC thickened axonal profile count was marginally lower in familial ET than sporadic ET (respective p values = 0.037 [using liberal criteria] and 0.17 [using conservative criteria]), and the PC axonal branching count was marginally lower in familial than sporadic ET (respective p values = 0.045 [using liberal criteria] and 0.079 [using conservative criteria]). After correction for multiple comparisons, however, there were no significant differences. Overall, familial and sporadic ET cases share very similar cerebellar postmortem features. These data indicate that pathological changes in the cerebellum are a part of the pathophysiological cascade of events in both forms of ET.
authors.affiliation: Department of Neurology, Yale School of Medicine, Yale University, 15 York Street, PO Box 208018, New Haven, CT, 06520-8018, USA. elan.louis@yale.edu.|Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA. elan.louis@yale.edu.|Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA. elan.louis@yale.edu.
authors.forename: Elan D
authors.initials: ED
authors.lastname: Louis
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
authors.forename: Sheng-Han
authors.initials: SH
authors.lastname: Kuo
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.|Department of Basic and Community Nursing, School of Nursing, Nanjing Medical University, Nanjing, Jiangsu Province, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA.
authors.forename: William J
authors.initials: WJ
authors.lastname: Tate
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.|Department of Medical Research, National Taiwan University, Taipei, Taiwan.
authors.forename: Ming-Kai
authors.initials: MK
authors.lastname: Pan
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Geoffrey C
authors.initials: GC
authors.lastname: Kelly
authors.affiliation: Department of Neurology, Yale School of Medicine, Yale University, 15 York Street, PO Box 208018, New Haven, CT, 06520-8018, USA.
authors.forename: Jesus
authors.initials: J
authors.lastname: Gutierrez
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA.|Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA.
authors.forename: Etty P
authors.initials: EP
authors.lastname: Cortes
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA.|Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA.
authors.forename: Jean-Paul G
authors.initials: JG
authors.lastname: Vonsattel
authors.affiliation: Department of Pathology and Cell Biology, Columbia University Medical Center and the New York Presbyterian Hospital, New York, NY, USA.
authors.forename: Phyllis L
authors.initials: PL
authors.lastname: Faust
mesh_terms: D000369:Aged, 80 and over; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology*; D020329:Essential Tremor / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male
keywords: Cerebellum; Essential tremor; Family history; Neurodegenerative; Pathology; Purkinje cell