Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry

The Lancet Neurology

Volumn 9, Issue 6, 2010, Pages 613-622

  Louis, Elan D ^a  

^a Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOPSY; BRAIN DEGENERATION; BRAIN DYSFUNCTION; BRAIN STEM; CEREBELLUM; DEGENERATIVE DISEASE; ESSENTIAL TREMOR; GABAERGIC SYSTEM; HISTOPATHOLOGY; HUMAN; LEWY BODY; NEUROPATHOLOGY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PURKINJE CELL; REVIEW; SYNAPTIC TRANSMISSION;

ANIMALS; BRAIN; ESSENTIAL TREMOR; HUMANS;

EID: 77952551416     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(10)70090-9     Document Type: Review

References (118)

1. Benito-Leon J., Bermejo-Pareja F., Morales J.M., Vega S., and Molina J.A. Prevalence of essential tremor in three elderly populations of central Spain. Mov Disord 18 (2003) 389-394
2. Louis E.D., Ottman R., and Hauser W.A. How common is the most common adult movement disorder? Estimates of the prevalence of essential tremor throughout the world. Mov Disord 13 (1998) 5-10
3. MacDonald B.K., Cockerell O.C., Sander J.W., and Shorvon S.D. The incidence and lifetime prevalence of neurological disorders in a prospective community-based study in the UK. Brain 123 (2000) 665-676
4. Louis E.D., Fernandez-Alvarez E., Dure L.S., Frucht S., and Ford B. Association between male gender and pediatric essential tremor. Mov Disord 20 (2005) 904-906
5. Benito-Leon J., Bermejo-Pareja F., and Louis E.D. Incidence of essential tremor in three elderly populations of central Spain. Neurology 64 (2005) 1721-1725
6. Dogu O., Sevim S., Camdeviren H., et al. Prevalence of essential tremor: door-to-door neurologic exams in Mersin Province, Turkey. Neurology 61 (2003) 1804-1806
7. Louis E.D., Thawani S.P., and Andrews H.F. Prevalence of essential tremor in a multiethnic, community-based study in northern Manhattan, New York, N.Y. Neuroepidemiology 32 (2009) 208-214
8. Burresi P. Sopra un caso di tremore essenziale. Memore originali. Conferenza raccolta dallo studente Alfredo Rubini (22 Febbraio, 1874, Siena). Lo Sperimentale 33 (1874) 475-481
9. Critchley M. Observations of essential (heredofamilial) tremor. Brain 72 (1949) 113-139
10. Louis E.D., and Vonsattel J.P. The emerging neuropathology of essential tremor. Mov Disord 23 (2007) 174-182
11. Rajput A., Robinson C.A., and Rajput A.H. Essential tremor course and disability: a clinicopathologic study of 20 cases. Neurology 62 (2004) 932-936
12. Louis E.D., Yi H., Erickson-Davis C., Vonsattel J.P., and Faust P.L. Structural study of Purkinje cell axonal torpedoes in essential tremor. Neurosci Lett 450 (2009) 287-291
13. Louis E.D., Faust P.L., Vonsattel J.P., et al. Older onset essential tremor: more rapid progression and more degenerative pathology. Mov Disord 24 (2009) 1606-1612
14. Axelrad J.E., Louis E.D., Honig L.S., et al. Reduced Purkinje cell number in essential tremor: a postmortem study. Arch Neurol 65 (2008) 101-107
15. Louis E.D., Faust P.L., Vonsattel J.P., et al. Neuropathological changes in essential tremor: 33 cases compared with 21 controls. Brain 130 (2007) 3297-3307
16. Louis E.D., Vonsattel J.P., Honig L.S., et al. Essential tremor associated with pathologic changes in the cerebellum. Arch Neurol 63 (2006) 1189-1193
17. Louis E.D., Vonsattel J.P., Honig L.S., Ross G.W., Lyons K.E., and Pahwa R. Neuropathologic findings in essential tremor. Neurology 66 (2006) 1756-1759
18. Louis E.D., Honig L.S., Vonsattel J.P., Maraganore D.M., Borden S., and Moskowitz C.B. Essential tremor associated with focal nonnigral Lewy bodies: a clinicopathologic study. Arch Neurol 62 (2005) 1004-1007
19. Shill H.A., Adler C.H., Sabbagh M.N., et al. Pathologic findings in prospectively ascertained essential tremor subjects. Neurology 70 (2008) 1452-1455
20. Rajput A., Luo C., Rajput A.H., Rajput M.L., and Robinson C.A. Purkinje cell (PC) count and glutamic acide decarboxylase (GAD) in essential tremor (ET) cerebellum. Mov Disord 23 suppl 1 (2008) S388-S389
21. Rajput A.H., Rozdilsky B., Ang L., and Rajput A. Clinicopathologic observations in essential tremor: report of six cases. Neurology 41 (1991) 1422-1424
22. Louis E.D. Essential tremors: a family of neurodegenerative disorders?. Arch Neurol 66 (2009) 1202-1208
23. Louis E.D., Faust P.L., Vonsattel J.P., et al. Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains. Mov Disord 24 (2009) 1600-1605
24. Kato T., and Hirano A. A Golgi study of the proximal portion of the human Purkinje cell axon. Acta Neuropathol 68 (1985) 191-195
25. Mann D.M., Stamp J.E., Yates P.O., and Bannister C.M. The fine structure of the axonal torpedo in Purkinje cells of the human cerebellum. Neurol Res 1 (1980) 369-378
26. Oyanagi S. An ultrastructural observation of torpedoes in the human degenerative cerebellum. J Clin Electron Microsc 9 (1976) 672-673
27. Baurle J., and Grusser-Cornehls U. Axonal torpedoes in cerebellar Purkinje cells of two normal mouse strains during aging. Acta Neuropathol 88 (1994) 237-245
28. Robertson J., Kriz J., Nguyen M.D., and Julien J.P. Pathways to motor neuron degeneration in transgenic mouse models. Biochimie 84 (2002) 1151-1160
29. Beaulieu J.M., Nguyen M.D., and Julien J.P. Late onset of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 147 (1999) 531-544
30. Cleveland D.W., and Rothstein J.D. From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2 (2001) 806-819
31. Liem R.K., and Leung C.L. Neuronal intermediate filament overexpression and neurodegeneration in transgenic mice. Exp Neurol 184 (2003) 3-8
32. Louis E.D., Faust P.L., Vonsattel J.P., and Erickson-Davis C. Purkinje cell axonal torpedoes are unrelated to advanced aging and likely reflect cerebellar injury. Acta Neuropathol 117 (2009) 719-721
33. Takahashi N., Iwatsubo T., Nakano I., and Machinami R. Focal appearance of cerebellar torpedoes associated with discrete lesions in the cerebellar white matter. Acta Neuropathol 84 (1992) 153-156
34. Yaginuma M., Ishida K., Uchihara T., et al. Paraneoplastic cerebellar ataxia with mild cerebello-olivary degeneration and an anti-neuronal antibody: a clinicopathological study. Neuropathol Appl Neurobiol 26 (2000) 568-571
35. Mizuno Y., Takeuchi T., Takatama M., and Okamoto K. Expression of nestin in Purkinje cells in patients with Creutzfeldt-Jakob disease. Neurosci Lett 352 (2003) 109-112
36. Rolfs A., Koeppen A.H., Bauer I., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54 (2003) 367-375
37. Nakamura R., Kurita K., Kawanami T., and Kato T. An immunohistochemical study of Purkinje cells in a case of hereditary cerebellar cortical atrophy. Acta Neuropathol 97 (1999) 196-200
38. Kuo S.H., Faust P.L., Vonsattel J.P.G., and Louis E.D. Increased number of heterotopic Purkinje cells in essential tremor. Neurology 74 suppl 2 (2010) A348
39. Erickson-Davis C.R., Faust P.L., Vonsattel J.P.G., Gupta S., Honig L.S., and Louis E.D. "Hairy baskets" associated with degenerative Purkinje cell changes in essential tremor. J Neuropathol Exp Neurol 69 (2010) 262-271
40. Dickson D., Ross G.W., Cerosimo M., et al. Pathological investigation of essential tremor. Neurology 62 (2004) A537-A538
41. Deuschl G., and Elble R. Essential tremor-neurodegenerative or nondegenerative disease towards a working definition of ET. Mov Disord 24 (2009) 2033-2041
42. Saito Y., Ruberu N.N., Sawabe M., et al. Lewy body-related alpha-synucleinopathy in aging. J Neuropathol Exp Neurol 63 (2004) 742-749
43. Beach T.G., Adler C.H., Sue L.I., et al. Reduced striatal tyrosine hydroxylase in incidental Lewy body disease. Acta Neuropathol 115 (2008) 445-451
44. Olson L., and Fuxe K. On the projections from the locus coeruleus noradrealine neurons: the cerebellar innervations. Brain Res 28 (1971) 165-171
45. Hicks T.P., Locock R.A., and Jason G.W. Is octopamine a 'false transmitter'? Regional distribution and serial changes in octopamine and noradrenaline following locus coeruleus lesions. Brain Res 421 (1987) 315-324
46. Fritschy J.M., and Grzanna R. Immunohistochemical analysis of the neurotoxic effects of DSP-4 identifies two populations of noradrenergic axon terminals. Neuroscience 30 (1989) 181-197
47. Wang Y., Freund R.K., and Palmer M.R. Potentiation of ethanol effects in cerebellum by activation of endogenous noradrenergic inputs. J Pharmacol Exp Ther 288 (1999) 211-220
48. Foote S.L., Bloom F.E., and Aston-Jones G. Nucleus locus ceruleus: new evidence of anatomical and physiological specificity. Physiol Rev 63 (1983) 844-914
49. Moises H.C., Waterhouse B.D., and Woodward D.J. Locus coeruleus stimulation potentiates Purkinje cell responses to afferent input: the climbing fiber system. Brain Res 222 (1981) 43-64
50. Moises H.C., and Woodward D.J. Potentiation of GABA inhibitory action in cerebrllum by locus coeruleus stimulation. Brain Res 182 (1980) 327-344
51. Hoffer B.J., Siggins G.R., Oliver A.P., and Bloom F.E. Activation of the pathway from locus coeruleus to rat cerebellar Purkinje neurons: pharmacological evidence of noradrenergic central inhibition. J Pharmacol Exp Ther 184 (1973) 553-569
52. Rogers J., Zornetzer S.F., and Bloom F.E. Senescent pathology of cerebellum: Purkinje neurons and their parallel fiber afferents. Neurobiol Aging 2 (1981) 15-25
53. Mavridis M., Degryse A.D., Lategan A.J., Marien M.R., and Colpaert F.C. Effects of locus coeruleus lesions on parkinsonian signs, striatal dopamine and substantia nigra cell loss after 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine in monkeys: a possible role for the locus coeruleus in the progression of Parkinson's disease. Neuroscience 41 (1991) 507-523
54. Robain O., Lanfumey L., Adrien J., and Farkas E. Developmental changes in the cerebellar cortex after locus ceruleus lesion with 6-hydroxydopamine in the rat. Exp Neurol 88 (1985) 150-164
55. Sievers J., Berry M., and Baumgarten H. The role of noradrenergic fibres in the control of post-natal cerebellar development. Brain Res 207 (1981) 200-208
56. Sievers J., and Klemm H.P. Locus coeruleus-cerebellum: interaction during development. Bibl Anat 23 (1982) 56-75
57. Maier S.E., and West J.R. Alcohol and nutritional control treatments during neurogenesis in rat brain reduce total neuron number in locus coeruleus, but not in cerebellum or inferior olive. Alcohol 30 (2003) 67-74
58. Leegwater-Kim J., Louis E.D., Pullman S.L., et al. Intention tremor of the head in patients with essential tremor. Mov Disord 21 (2006) 2001-2005
59. Louis E.D., Frucht S.J., and Rios E. Intention tremor in essential tremor: prevalence and association with disease duration. Mov Disord 24 (2009) 626-627
60. Singer C., Sanchez-Ramos J., and Weiner W.J. Gait abnormality in essential tremor. Mov Disord 9 (1994) 193-196
61. Helmchen C., Hagenow A., Miesner J., et al. Eye movement abnormalities in essential tremor may indicate cerebellar dysfunction. Brain 126 (2003) 1319-1332
62. Trillenberg P., Fuhrer J., Sprenger A., et al. Eye-hand coordination in essential tremor. Mov Disord 21 (2006) 373-379
63. Bucher S.F., Seelos K.C., Dodel R.C., Reiser M., and Oertel W.H. Activation mapping in essential tremor with functional magnetic resonance imaging. Ann Neurol 41 (1997) 32-40
64. Jenkins I.H., Bain P.G., Colebatch J.G., et al. A positron emission tomography study of essential tremor: evidence for overactivity of cerebellar connections. Ann Neurol 34 (1993) 82-90
65. Louis E.D., Shungu D.C., Chan S., Mao X., Jurewicz E.C., and Watner D. Metabolic abnormality in the cerebellum in patients with essential tremor: a proton magnetic resonance spectroscopic imaging study. Neurosci Lett 333 (2002) 17-20
66. Pagan F.L., Butman J.A., Dambrosia J.M., and Hallett M. Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy. Neurology 60 (2003) 1344-1347
67. Shin D.H., Han B.S., Kim H.S., and Lee P.H. Diffusion tensor imaging in patients with essential tremor. AJNR Am J Neuroradiol 29 (2008) 151-153
68. Benito-Leon J., Alvarez-Linera J., Hernandez-Tamames J.A., Alonso-Navarro H., Jimenez-Jimenez F.J., and Louis E.D. Brain structural changes in essential tremor: voxel-based morphometry at 3-Tesla. J Neurol Sci 287 (2009) 138-142
69. Wills A.J., Jenkins I.H., Thompson P.D., Findley L.J., and Brooks D.J. Red nuclear and cerebellar but no olivary activation associated with essential tremor: a positron emission tomographic study. Ann Neurol 36 (1994) 636-642
70. Boecker H., Wills A.J., Ceballos-Baumann A., et al. The effect of ethanol on alcohol-responsive essential tremor: a positron emission tomography study. Ann Neurol 39 (1996) 650-658
71. Wills A.J., Jenkins I.H., Thompson P.D., Findley L.J., and Brooks D.J. A positron emission tomography study of cerebral activation associated with essential and writing tremor. Arch Neuol 52 (1995) 299-305
72. Colebatch J.G., Findley L.J., Frackowiak R.S., Marsden C.D., and Brooks D.J. Preliminary report: activation of the cerebellum in essential tremor. Lancet 336 (1990) 1028-1030
73. Malaspina D., Harkavy-Friedman J., Corcoran C., et al. Resting neural activity distinguishes subgroups of schizophrenia patients. Biol Psychiatry 56 (2004) 931-937
74. Medoff D.R., Holcomb H.H., Lahti A.C., and Tamminga C.A. Probing the human hippocampus using rCBF: contrasts in schizophrenia. Hippocampus 11 (2001) 543-550
75. Vawter M.P., Thatcher L., Usen N., Hyde T.M., Kleinman J.E., and Freed W.J. Reduction of synapse in the hippocampus of patients with bipolar disorder and schizophrenia. Mol Psychiatry 7 (2002) 571-578
76. Casanova M.F. The temporolimbic system theory of paranoid schizophrenia. Schizophr Bull 23 (1997) 513-515
77. Haier R.J., Alkire M.T., White N.S., et al. Temporal cortex hypermetabolism in Down syndrome prior to the onset of dementia. Neurology 61 (2003) 1673-1679
78. Louis E.D. A new twist for stopping the shakes? Revisiting GABAergic therapy for essential tremor. Arch Neurol 56 (1999) 807-808
79. Mally J., Baranyi M., and Vizi E.S. Change in the concentrations of amino acids in CSF and serum of patients with essential tremor. J Neural Transm 103 (1996) 555-560
80. Stafstrom C.E. Mechanisms of action of antiepileptic drugs: the search for synergy. Curr Opin Neurol 23 (2010) 157-163
81. Slemmer J.E., De Zeeuw C.I., and Weber J.T. Don't get too excited: mechanisms of glutamate-mediated Purkinje cell death. Prog Brain Res 148 (2005) 367-390
82. Koeppen A.H. The pathogenesis of spinocerebellar ataxia. Cerebellum 4 (2005) 62-73
83. Uyematsu S. A study of some peculiar changes found in the oxons and dendrites of the Purkinje cells. Arch Neurol Psychiatry 5 (1921) 231-269
84. Kieling C., Prestes P.R., Saraiva-Pereira M.L., and Jardim L.B. Survival estimates for patients with Machado-Joseph disease (SCA3). Clin Genet 72 (2007) 543-545
85. Modi G., Modi M., Martinus I., Rodda J., and Saffer D. The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families. Acta Neurol Scand 101 (2000) 177-182
86. Robitaille Y., Schut L., and Kish S.J. Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol 90 (1995) 572-581
87. Gomez C.M., Thompson R.M., Gammack J.T., et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42 (1997) 933-950
88. Yahr M.D., Orosz D., and Purohit D.P. Co-occurrence of essential tremor and Parkinson's disease: clinical study of a large kindred with autopsy findings. Parkinsonism Relat Disord 9 (2003) 225-231
89. Farrer M., Gwinn-Hardy K., Muenter M., et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 8 (1999) 81-85
90. Chaudhuri K.R., Buxton-Thomas M., Dhawan V., Peng R., Meilak C., and Brooks D.J. Long duration asymmetrical postural tremor is likely to predict development of Parkinson's disease and not essential tremor: clinical follow up study of 13 cases. J Neurol Neurosurg Psychiatry 76 (2005) 115-117
91. Minen M.T., and Louis E.D. Emergence of Parkinson's disease in essential tremor: a study of the clinical correlates in 53 patients. Mov Disord 23 (2008) 1602-1605
92. Benito-Leon J., Louis E.D., and Bermejo-Pareja F. Risk of incident Parkinson's disease and parkinsonism in essential tremor: a population based study. J Neurol Neurosurg Psychiatry 80 (2009) 423-425
93. Braak H., Del Tredici K., Rub U., de Vos R.A., Jansen Steur E.N., and Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 24 (2003) 197-211
94. Mayeux R. Epidemiology of neurodegeneration. Annu Rev Neurosci 26 (2003) 81-104
95. Critchley M., and Greenfield J.G. Olivo-pontocerebellar atrophy. Brain 71 (1948) 343-364
96. Larsson R., and Sjogren T. Essential tremor: a clinical and genetic population study. Acta Psychiatr Scand Suppl 36 (1960) 1-176
97. Putzke J.D., Whaley N.R., Baba Y., Wszolek Z.K., and Uitti R.J. Essential tremor: predictors of disease progression in a clinical cohort. J Neurol Neurosurg Psychiatry 77 (2006) 1235-1237
98. Rajput A.H., Offord K.P., Beard C.M., and Kurland L.T. Essential tremor in Rochester, Minnesota: a 45-year study. J Neurol Neurosurg Psychiatry 47 (1984) 466-470
99. Das S.K., Biswas A., Roy J., et al. Prevalence of major neurological disorders among geriatric population in the metropolitan city of Kolkata. J Assoc Physicians India 56 (2008) 175-181
100. Rautakorpi I., Takala J., Marttila R.J., Sievers K., and Rinne U.K. Essential tremor in a Finnish population. Acta Neurol Scand 66 (1982) 58-67
101. Bergareche A., De La Puente E., De Munain A.L., et al. Prevalence of essential tremor: a door-to-door survey in Bidasoa, Spain. Neuroepidemiology 20 (2001) 125-128
102. Tan E.K., Lee S.S., Fook-Chong S., and Lum S.Y. Evidence of increased odds of essential tremor in Parkinson's disease. Mov Disord 23 (2008) 993-997
103. Benito-Leon J., Louis E.D., and Bermejo-Pareja F. Elderly-onset essential tremor is associated with dementia. Neurology 66 (2006) 1500-1505
104. Thawani S.P., Schupf N., and Louis E.D. Essential tremor is associated with dementia: prospective population-based study in New York. Neurology 73 (2009) 621-625
105. Bermejo-Pareja F., Louis E.D., and Benito-Leon J. Risk of incident dementia in essential tremor: a population-based study. Mov Disord 22 (2007) 1573-1580
106. Louis E.D., Benito-Leon J., Ottman R., and Bermejo-Pareja F. A population-based study of mortality in essential tremor. Neurology 69 (2007) 1982-1989
107. Stolze H., Petersen G., Raethjen J., Wenzelburger R., and Deuschl G. The gait disorder of advanced essential tremor. Brain 124 (2001) 2278-2286
108. Louis E.D., BromleY S.M., Jurewicz E.C., and Watner D. Olfactory dysfunction in essential tremor: a deficit unrelated to disease duration or severity. Neurology 59 (2002) 1631-1633
109. Louis E.D., Marder K., Jurewicz E.C., Watner D., Levy G., and Mejia-Santana H. Body mass index in essential tremor. Arch Neurol 59 (2002) 1273-1277
110. Dogu O., Sevim S., Louis E.D., Kaleagasi H., and Aral M. Reduced body mass index in patients with essential tremor: a population-based study in the province of Mersin, Turkey. Arch Neurol 61 (2004) 386-389
111. Sinton C.M., Krosser B.I., Walton K.D., and Llinas R.R. The effectiveness of different isomers of octanol as blockers of harmaline-induced tremor. Pflugers Arch 414 (1989) 31-36
112. Klebe S., Stolze H., Grensing K., Volkmann J., Wenzelburger R., and Deuschl G. Influence of alcohol on gait in patients with essential tremor. Neurology 65 (2005) 96-101
113. Weiner W.J. An algorithm (decision tree) for the management of Parkinson's disease (2001): treatment guidelines. Neurology 58 (2002) 156
114. Cardoso F. Huntington disease and other choreas. Neurol Clin 27 (2009) 719-736
115. Mori M., Adachi Y., Mori N., et al. Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration. J Neurol Sci 195 (2002) 149-152
116. Zesiewicz T.A., Sullivan K.L., Freeman A., and Juncos J.L. Treatment of imbalance with varenicline Chantix(R): report of a patient with fragile X tremor/ataxia syndrome. Acta Neurol Scand 119 (2009) 135-138
117. Sanchez A.E., Mejia-Toiber J., and Massieu L. Excitotoxic neuronal death and the pathogenesis of Huntington's disease. Arch Med Res 39 (2008) 265-276
118. O'Hearn E., and Molliver M.E. Administration of a non-NMDA antagonist, GYKI 52466, increases excitotoxic Purkinje cell degeneration caused by ibogaine. Neuroscience 127 (2004) 373-383