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The Cerebellum

, Volume 16, Issue 4, pp 786–791 | Cite as

Cerebellar Pathology in Familial vs. Sporadic Essential Tremor

  • Elan D. Louis
  • Sheng-Han Kuo
  • Jie Wang
  • William J. Tate
  • Ming-Kai Pan
  • Geoffrey C. Kelly
  • Jesus Gutierrez
  • Etty P. Cortes
  • Jean-Paul G. Vonsattel
  • Phyllis L. Faust
Original Paper

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.

Keywords

Essential tremor Cerebellum Neurodegenerative Purkinje cell Pathology Family history 

Notes

Acknowledgements

Dr. Louis has received research support from the National Institutes of Health: NINDS #R01 NS094607 (principal investigator), NINDS #R01 NS39422 (principal investigator), NINDS #R01 NS086736 (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). Dr. Kuo has received funding from the National Institutes of Health: NINDS #K08 NS083738 (principal investigator), and the Louis V. Gerstner Jr. Scholar Award, Parkinson’s Disease Foundation, and International Essential Tremor Foundation. Dr. Wang has received funding from the Jiangsu Government Scholarship for Overseas studies and Qing Lan Project supported by Jiangsu Provincial Department of Education, China. Dr. Vonsattel has received funding from the National Institutes of Health: NINDS #R01 NS088257 (coinvestigator) and NINDS #R01 NS086736 (coinvestigator). Dr. Faust has received funding from the National Institutes of Health: NINDS #R01 NS088257 (principal investigator) and NINDS #R01 NS085136 (principal investigator).

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Elan D. Louis
    • 1
    • 2
    • 3
  • Sheng-Han Kuo
    • 4
  • Jie Wang
    • 4
    • 5
  • William J. Tate
    • 6
  • Ming-Kai Pan
    • 4
    • 7
  • Geoffrey C. Kelly
    • 6
  • Jesus Gutierrez
    • 1
  • Etty P. Cortes
    • 6
    • 8
  • Jean-Paul G. Vonsattel
    • 6
    • 8
  • Phyllis L. Faust
    • 6
  1. 1.Department of Neurology, Yale School of MedicineYale UniversityNew HavenUSA
  2. 2.Department of Chronic Disease Epidemiology, Yale School of Public HealthYale UniversityNew HavenUSA
  3. 3.Center for Neuroepidemiology and Clinical Neurological Research, Yale School of MedicineYale UniversityNew HavenUSA
  4. 4.Department of Neurology, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA
  5. 5.Department of Basic and Community Nursing, School of NursingNanjing Medical UniversityNanjingChina
  6. 6.Department of Pathology and Cell BiologyColumbia University Medical Center and the New York Presbyterian HospitalNew YorkUSA
  7. 7.Department of Medical ResearchNational Taiwan UniversityTaipeiTaiwan
  8. 8.Taub Institute for Research on Alzheimer’s Disease and the Aging BrainColumbia UniversityNew YorkUSA

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