Despite its being one of the most commonly observed neurological disorders, neuropathological studies of essential tremor (ET) are rare. There have been surprisingly few autopsy studies and even fewer case-control comparisons. The primary objective was to describe and quantify the pathological changes in 33 ET and 21 control brains. A secondary objective was to correlate clinical and pathological features. We examined autopsy tissue from the Essential Tremor Centralized Brain Repository. Eight (24.2%) of the 33 ET brains had Lewy bodies in the brainstem, mainly in the locus ceruleus. However, the majority of ET brains (25/33, 75.8%) had no Lewy bodies, but had pathological changes in the cerebellum. The mean number of Purkinje cells per 100× field was reduced in ET cases without Lewy bodies (6.6 ± 2.4 versus 9.6 ± 3.4, P < 0.01), and there were ∼7× more Purkinje cell torpedoes per section (12.6 ± 7.9 versus 1.7 ± 1.4, P < 0.001) compared to controls. ET cases without Lewy bodies also had degeneration of the dentate nucleus (two cases). Other findings in ET cases were Purkinje cell heterotopias and dendrite swellings. Lewy body ET cases were older than ET cases without Lewy bodies. Several trends were observed in ET cases without Lewy bodies, including a younger age of onset of tremor and higher proportions with gait difficulty and family history of ET. The pathological changes of ET seem to be heterogeneous and degenerative. The majority have cerebellar changes without Lewy bodies; a smaller proportion has brainstem Lewy bodies. The clinical differences between cases with versus without Lewy bodies require additional study.

Research from JAMA Neurology — Common Misdiagnosis of a Common Neurological Disorder — How Are We Misdiagnosing Essential Tremor?

Essential tremor (ET) is among the most prevalent movement disorders. Comprehensive reviews of disease prevalence were published in 1998 and 2010 but not since then. We reviewed the prevalence of ET in population-based epidemiological studies, derived a precise summary estimate of prevalence from these studies, and examined differences in prevalence across studies. We used two methods: a descriptive-analytical approach and a meta-analysis. A PUBMED search yielded 14 published papers since the 2010 review. There were 42 population-based prevalence studies (23 countries and 6 continents). In a meta-analysis, pooled prevalence (all ages) = 1.33%, with statistically significant heterogeneity across studies (I2 = 99.3%, p < 0.0001). In additional descriptive analyses, median crude prevalence (all ages) = 0.4% and mean = 0.67%. Prevalence increased markedly with age, and especially with advanced age. In the meta-analysis, prevalence (age ≥ 65 years) = 5.79%, and in descriptive analyses, median crude prevalence (age ≥ 60–65) = 5.9% and mean = 8.0%. In the oldest age groups, median prevalence = 9.3%, with several studies reporting values >20%. The prevalence increased by 74% for every decade increase in age (p < 0.0001). Gender did not impact the prevalence of ET (p = 0.90). Precise prevalence estimates are important because they form the numerical basis for public health initiatives and offer clues about underlying biological factors of mechanistic importance. The prevalence of ET among those age ≥ 65 is similar to that reported for Alzheimer’s disease in elders, suggesting that ET may be the most common neurodegenerative disease.

ESSENTIAL TREMOR (ET), the most common tremor disorder,^1-3 usually is characterized by kinetic and postural tremors, whereas tremor at rest is considered to be more characteristic of parkinsonism. Rest tremor in the absence of bradykinesia, rigidity, or other clinically detectable features of parkinsonism is known to occur in ET, although only 18 of these cases have been reported.^4-8 The precise prevalence of rest tremor in patients with ET is unknown, although it is probably more common than these few articles would suggest. In addition, the clinical correlates (ie, the nature and extent of the relationships between this rest tremor and other disease manifestations) have not been studied, and our understanding of the phenomenon remains limited. Finally, electrophysiologic study has been restricted to data on tremor amplitude and frequency.⁴