Marina Gerbin

Columbia University, New York City, NY, United States

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Publications (15)47.44 Total impact

  • E D Louis, M Gerbin, M Galecki
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    ABSTRACT: BACKGROUND AND PURPOSE: Essential tremor (ET) is a chronic, progressive neurological disorder in which disease burden may slowly accrue. There are few long-term studies, and the clinical and functional status of patients, with each decade of disease duration, has not been documented in detail. We used cross-sectional data on 335 patients with ET (disease duration 1-81 years) to produce clinical snapshots of the disease at each 10-year milestone (i.e. < 10, 10-19, 20-29, 30-39, ≥ 40 years). We hope these data will be of value in clinical-prognostic settings both to patients and their treating physicians. METHODS: In this cross-sectional, clinical-epidemiological study at Columbia-University Medical Center, each patient underwent a single evaluation, including self-reported measures of tremor-related disability, performance-based measures of function, and neurologist-assessments of tremor type, location and severity. RESULTS: A variety of metrics of tremor severity increased across the 10-year time intervals. By ≥ 40 years duration, one-third of patients had tremor in at least two cranial locations (neck, voice, jaw), and the proportion with high-amplitude tremor reached 20.3% (while drawing spirals), 33.8% (spilling while drinking) and 60.8% (spilling while using a spoon). Yet even in the longest tremor duration group, very few (< 10%) were incapacitated (i.e. completely unable to perform the above-mentioned tasks), and one-third continued to exhibit no cranial tremor. CONCLUSIONS: These data paint a picture of progressive decade-by-decade decline in ET. Yet patients with long disease duration did not relentlessly converge at the same end-stage of severe, functionally incapacitating, diffuse tremor. In this respect, long-duration ET patients presented a heterogeneous picture.
    European Journal of Neurology 03/2013; · 4.16 Impact Factor
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    Elan D Louis, Marina Gerbin
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    ABSTRACT: Although voice tremor is one of the most commonly noted clinical features of essential tremor (ET), there are nearly no published data on the handicap associated with it. The Voice Handicap Index (VHI) was self-administered by participants enrolled in a research study at Columbia University Medical Center. The VHI quantifies patients' perceptions of handicap due to voice difficulties. Data from 98 ET cases were compared with data from 100 controls and 85 patients with another movement disorder (Parkinson's disease, PD). Voice tremor was present on examination in 25 (25.5%) ET cases; 12 had mild voice tremor (ETMild VT) and 13 had marked voice tremor (ETMarked VT). VHI scores were higher in ET cases than controls (p = 0.02). VHI scores among ETMarked VT were similar to those of PD cases; both were significantly higher than controls (p<0.001). The three VHI subscale scores (physical, functional, emotional) were highest in ETMarked VT, with values that were similar to those observed in PD. The voice handicap associated with ET had multiple (i.e., physical, functional, and emotional) dimensions. Moreover, ET cases with marked voice tremor on examination had a level of self-reported voice handicap that was similar to that observed in patients with PD.
    Tremor and other hyperkinetic movements (New York, N.Y.). 01/2013; 3.
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    ABSTRACT: BACKGROUND: Environmental correlates for essential tremor (ET) are largely unexplored. The search for such environmental factors has involved the study of a number of neurotoxins. Harmane (1-methyl-9H-pyrido[3,4-b]indole) is a potent tremor-producing toxin. In two prior case-control studies in New York, we demonstrated that blood harmane concentration was elevated in ET patients vs. controls, and especially in familial ET cases. These findings, however, have been derived from a study of cases ascertained through a single tertiary referral center in New York. OBJECTIVE: Our objective was to determine whether blood harmane concentrations are elevated in familial and sporadic ET cases, ascertained from central Spain, compared to controls without ET. METHODS: Blood harmane concentrations were quantified by a well-established high performance liquid chromatography method. RESULTS: The median harmane concentrations were: 2.09g(-10)/ml (138 controls), 2.41g(-10)/ml (68 sporadic ET), and 2.90g(-10)/ml (62 familial ET). In an unadjusted logistic regression analysis, log blood harmane concentration was not significantly associated with diagnosis (familial ET vs. control): odds ratio=1.56, p=0.26. In a logistic regression analysis that adjusted for evaluation start time, which was an important confounding variable, the odds ratio increased to 2.35, p=0.049. CONCLUSIONS: Blood harmane levels were slightly elevated in a group of familial ET cases compared to a group of controls in Spain. These data seem to further extend our observations from New York to a second cohort of ET cases in Spain. This neurotoxin continues to be a source of interest for future confirmatory research.
    NeuroToxicology 09/2012; · 2.65 Impact Factor
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    ABSTRACT: Essential tremor (ET) is a widespread late-life neurological disease. Genetic and environmental factors are likely to play important etiological roles. Harmane (1-methyl-9H-pyrido[3,4-b]indole) is a potent tremor-producing neurotoxin. Previously, elevated blood harmane concentrations were demonstrated in ET cases compared to controls, but these observations have all been cross-sectional, assessing each subject at only one time point. Thus, no one has ever repeat-assayed blood harmane in the same subjects twice. Whether the observed case-control difference persists at a second time point, years later, is unknown. The current goal was to reassess a sample of our ET cases and controls to determine whether blood harmane concentration remained elevated in ET at a second time point. Blood harmane concentrations were quantified by a well-established high-performance liquid chromatography method in 63 ET cases and 70 controls. A mean of approximately 6 yr elapsed between the initial and this subsequent blood harmane determination. The mean log blood harmane concentration was significantly higher in cases than controls (0.30 ± 0.61 g(-10)/ml versus 0.08 ± 0.55 g(-10)/ml), and the median value in cases was double that of controls: 0.22 g(-10)/ml versus 0.11 g(-10)/ml. The log blood harmane concentration was highest in cases with a family history of ET. Blood harmane concentration was elevated in ET cases compared to controls when reassessed at a second time point several years later, indicating what seems to be a stable association between this environmental toxin and ET.
    Journal of Toxicology and Environmental Health Part A 06/2012; 75(12):673-83. · 1.73 Impact Factor
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    ABSTRACT: There is growing study of the psychiatric features of essential tremor. Depressive symptoms occur in a considerable number of patients. Yet their impact, as a primary factor, has received almost no attention. We assessed whether, independent of tremor severity, patients with more depressive symptoms have more perceived tremor-related disability, lower tremor-related quality of life, and poorer compliance with tremor medication. On the basis of their Center for Epidemiological Studies Depression Scale score, we stratified 70 essential tremor patients into three groups: 41 with minimal depressive symptoms, 24 with moderate depressive symptoms, and five with severe depressive symptoms. Importantly, the three groups had similar tremor severity on neurological examination. We assessed self-reported tremor-related disability, tremor-related quality of life (Quality of Life in Essential Tremor) (QUEST) score, and medication compliance. Cases with minimal depressive symptoms had the lowest QUEST scores (i.e., highest quality of life), cases with moderate depressive symptoms had intermediate scores, and those with severe depressive symptoms had the highest QUEST scores (i.e., lowest quality of life) (P < 0.001). Depressive symptoms were a stronger predictor of tremor-related quality of life than was the main motor feature of essential tremor (ET) itself (tremor). Self-reported medication compliance was lowest in cases with severe depressive symptoms and highest in cases with minimal depressive symptoms. The physical disability caused by the tremor of ET has traditionally been regarded as the most important feature of the disease that causes distress, and it has received the most attention in the management of patients with this disease. Our data indicate that this may not be the case.
    European Journal of Neurology 05/2012; 19(10):1349-54. · 4.16 Impact Factor
  • E D Louis, M Gerbin, A S Viner
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    ABSTRACT: Patients with essential tremor (ET) and Parkinson's disease (PD) may exhibit overlapping clinical features. Also, a growing number of non-motor features are being documented in ET. Color vision abnormalities, although well known to occur in PD, have not been studied extensively in ET. We assessed color vision in ET cases and controls. We furthermore assessed subgroups of ET cases with clinical features that might link them to PD (i.e., ET cases with a family history of PD, and ET cases with rest tremor) to determine whether these cases had greater color vision abnormalities than ET cases without those features. Participants were enrolled in a case-control study at Columbia University Medical Center. Color discrimination testing was performed using the Farnsworth-Munsell 100 Hue test. The total error score (TES) for the hue test was determined. The TES was similar in 55 ET cases and 55 controls (144.6 ± 91.8 vs. 145.6 ± 96.6, P = 0.96). ET cases with rest tremor (n = 8) were similar to ET cases without rest tremor (n = 47) with respect to the TES (117.0 ± 73.4 vs. 149.3 ± 94.4, P = 0.36), as were ET cases with a family history of PD (n = 9) versus without (n = 46) (144.4 ± 57.0 vs. 144.6 ± 97.6, P = 0.996). Although a number of links exist between ET and PD, and non-motor features have been described in both, a color vision abnormality does not seem to be a feature of ET.
    European Journal of Neurology 03/2012; 19(8):1136-9. · 4.16 Impact Factor
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    ABSTRACT: Apathy, defined as decreased goal-directed activity, has been observed in Parkinson's disease. A number of cognitive/psychiatric features have been documented in essential tremor, yet we are unaware of studies of apathy. Using the Apathy Evaluation Scale (range = 18-72 [more apathy]), we compared 79 essential tremor cases, 20 dystonia cases, and 39 Parkinson's disease cases with 80 normal controls. The score of the Apathy Evaluation Scale was higher in essential tremor, dystonia, and Parkinson's disease cases than controls (all P ≤ .04). Parkinson's disease cases had the highest scores. Analyses stratified by presence/absence of depressive symptoms indicated the presence of a group of apathetic but nondepressed cases. Patients with Parkinson's disease, essential tremor, and dystonia had elevated apathy scores. Features of apathy seemed to occur in these conditions independent of depressive symptoms. The mechanistic basis for the apparent increased features of apathy in essential tremor and dystonia deserves further study.
    Movement Disorders 12/2011; 27(3):432-4. · 5.63 Impact Factor
  • Marina Gerbin, Amanda S Viner, Elan D Louis
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    ABSTRACT: Recent studies have shed light on non-motor features of ET, such as depressive symptoms and cognitive changes, which might be attributed to pathophysiological changes in the brains of ET patients. Given these brain changes, we explored sleep abnormalities in ET patients. Sleep was assessed using the Epworth Sleepiness Scale (ESS) and the Pittsburgh Sleep Quality Index (PSQI) in 120 ET cases, 120 normal controls, and 40 PD cases. The mean±SD (median) ESS score increased from normal controls (5.7±3.7 (5.0)), to ET cases (6.8±4.6 (6.0)), to PD cases (7.8±4.9 (7.0)), test for trend p=0.03. An ESS score >10 (an indicator of greater than normal levels of daytime sleepiness) was observed in 11 (9.2%) normal controls, compared to 27 (22.5%) ET cases and 10 (25.0%) PD cases (p=0.008 when comparing all three groups, and p=0.005 when comparing ET to normal controls). The global PSQI score was 7.8±2.8 (7.5) in controls, 8.0±3.3 (8.0) in ET cases, and 9.9±3.9 (10.0) in PD cases. The ET case-control difference was not significant (p=0.8), yet in a test for trend, PD cases had the highest PSQI score (most daytime sleepiness), followed by ET (intermediate), and lowest scores in controls (p=0.02). Some sleep scores in ET were intermediate between those of PD cases and normal controls, suggesting that a mild form of sleep dysregulation could be present in ET.
    Parkinsonism & Related Disorders 11/2011; 18(3):279-84. · 3.27 Impact Factor
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    Elan D Louis, Ashwini K Rao, Marina Gerbin
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    ABSTRACT: Although a mild objective abnormality of gait and balance has been observed in essential tremor (ET) cases in research settings, the clinical significance of this finding for patients is far from clear. In this study, we assessed whether ET patients subjectively experience more gait difficulty, more falls or near misses than controls. Activities-specific Balance Confidence (ABC) scores were obtained in 59 ET cases (15 with head tremor and 44 without head tremor) and 82 controls enrolled in a clinical-epidemiological study. ABC scores were lower in ET cases than controls (61.8 ± 27.7 vs. 70.3 ± 28.1, p=0.035) of similar age (71.2 ± 14.6 years vs. 71. 6 ± 0.8 years), indicating significantly lower balance confidence in cases. The lowest scores (51.4 ± 26.9) were observed in cases with head tremor (p=0.02). Near misses in the past year were the highest in cases with head tremor (67.3 ± 112.1) and lowest in controls (6.1 ± 33.3, p=0.008). The proportion who had had ≥ 5 near misses or falls in the past year was 11 (13.4%) for controls, 8 (18.2%) for cases without head tremor and 6 (40.0%) for cases with head tremor (p=0.048). For the ABC score, we created a receiver operating curve (ROC) curve and optimal cut-off score to differentiate between our two most different groups, namely, ET with head tremor and controls. Using this cut-off (≤ 67), sensitivity and specificity were moderate. ET patients experience a loss of confidence in balance. The subgroup of patients with head tremor experienced the most gait and balance difficulty, with nearly one-in-two having had multiple near misses or falls during the previous year.
    Gait & posture 09/2011; 35(1):43-7. · 2.58 Impact Factor
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    ABSTRACT: Despite its high prevalence, there are surprisingly few prospective, longitudinal data on the clinical course of essential tremor (ET). Patients themselves often want to know from their treating physician whether and by how much their tremor is expected to worsen over time. As part of two research protocols, prospective, longitudinal data were collected on tremor severity in two samples of ET cases (44+39 cases, combined n=83). At a baseline and one follow-up evaluation, a detailed clinical assessment was performed and action tremor in the arms was rated by a senior movement disorders neurologist using a standardised clinical rating scale (Total Tremor Score (TTS), range 0-36). In the first case sample, TTS increased annually by 0.32 ± 0.89 points (ie, an annual increase of 5.3 ± 17.1% (median 1.8%) from the mean baseline score). TTS increased by ≥ 0.5 points in 23/24 (95.8%) cases followed for ≥ 5 years. In the second sample, TTS score increased annually by 0.64 ± 1.49 points (annual increase of 3.1 ± 8.1% (median 2.0%) from the mean baseline score). TTS increased by ≥ 0.5 points in 11/15 (73.3%) cases followed for ≥ 5 years. No baseline factors were identified that predicted annual change in TTS. Most ET cases exhibited a progressive worsening in tremor scores with time such that the average annual increase in tremor severity from baseline was estimated to be between 3.1% and 5.3% and the median annual increase from baseline was between 1.8% and 2.0%. These published estimates will hopefully be a useful prognostic guide for clinicians and their patients.
    Journal of neurology, neurosurgery, and psychiatry 03/2011; 82(7):761-5. · 4.87 Impact Factor
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    ABSTRACT: Harmane, a potent neurotoxin linked with several neurological disorders, is present in many foods, coffee, and cigarettes. We assessed whether morning food/coffee consumption and smoking were reflected in blood harmane concentrations (BHCs) we obtained in an epidemiologic sample (n = 497). Participants who smoked on the morning of phlebotomy had similar logBHCs to those who had not smoked (P = .57); there was no correlation between logBHCs and number of cigarettes (P = .59). Among the coffee drinkers, there was no correlation between number of cups and logBHCs (P = .98). Participants who had eaten on the morning of phlebotomy had similar logBHCs to those who had not (P = .49); logBHCs did not correlate with the time latency between last food consumption and phlebotomy (P = .74). BHCs in this sample of ~500 individuals did not covary with recent smoking, coffee, or food consumption, suggesting that our inability to withhold these exposures on the morning of phlebotomy was not reflected in the BHCs we measured.
    Journal of Toxicology 01/2011; 2011:628151.
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    ABSTRACT: Tremor is a widespread phenomenon in human populations. Environmental factors are likely to play an etiological role. Harmane (1-methyl-9H-pyrido[3,4-β]indole) is a potent tremor-producing β-carboline alkaloid. Lead is another tremor-producing neurotoxicant. The effects of harmane and lead with respect to tremor have been studied in isolation. We tested the hypothesis that tremor would be particularly severe among individuals who had high blood concentrations of both of these toxicants. Blood concentrations of harmane and lead were each quantified in 257 individuals (106 essential tremor cases and 151 controls) enrolled in an environmental epidemiological study. Total tremor score (range = 0-36) was a clinical measure of tremor severity. The total tremor score ranged from 0 to 36, indicating that a full spectrum of tremor severities was captured in our sample. Blood harmane concentration correlated with total tremor score (p = 0.007), as did blood lead concentration (p = 0.045). The total tremor score was lowest in participants with both low blood harmane and lead concentrations (8.4 ± 8.2), intermediate in participants with high concentrations of either toxicant (10.5 ± 9.8), and highest in participants with high concentrations of both toxicants (13.7 ± 10.4) (p=0.01). Blood harmane and lead concentrations separately correlated with total tremor scores. Participants with high blood concentrations of both toxicants had the highest tremor scores, suggesting an additive effect of these toxicants on tremor severity. Given the very high population prevalence of tremor disorders, identifying environmental determinants is important for primary disease prevention.
    NeuroToxicology 12/2010; 32(2):227-32. · 2.65 Impact Factor
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    ABSTRACT: Harmane, a potent tremor-producing β-carboline alkaloid, may play a role in the etiology of essential tremor (ET). Blood harmane concentrations are elevated in ET cases compared with controls yet the basis for this elevation remains unknown. Decreased metabolic conversion (harmane to harmine) is one possible explanation. Using a sample of >500 individuals, we hypothesized that defective metabolic conversion of harmane to harmine might underlie the observed elevated harmane concentration in ET, and therefore expected to find a higher harmane to harmine ratio in familial ET than in sporadic ET or controls. Blood harmane and harmine concentrations were quantified by high performance liquid chromatography. There were 78 familial ET cases, 187 sporadic ET cases, and 276 controls. Blood harmane and harmine concentrations were correlated with one another (Spearman's r=0.24, p<0.001). The mean (±SD) harmane/harmine ratio=23.4±90.9 (range=0.1-987.5). The harmane/harmine ratio was highest in familial ET (46.7±140.4), intermediate in sporadic ET (28.3±108.1), and lowest in controls (13.5±50.3) (p=0.03). In familial ET cases, there was no association between this ratio and tremor severity (Spearman's r=0.08, p=0.48) or tremor duration (Spearman's r=0.14, p=0.24). The basis for the elevated blood harmane concentration, particularly in familial ET, is not known, although the current findings (highest harmane/harmine ratio in familial ET cases) lends support to the possibility that it could be the result of a genetically-driven reduction in harmane metabolism.
    NeuroToxicology 12/2010; 31(6):674-9. · 2.65 Impact Factor
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    ABSTRACT: Embarrassment is commonly reported in essential tremor (ET) patients yet there is no formal tool to assess embarrassment in ET. Our aim was to develop such a tool and to assess its clinimetric properties. A quantitative measure of embarrassment could be used to assess response to treatment in clinical practice and clinical trials. Based on surveys of international tremor experts and ET patients, we constructed the Essential Tremor Embarrassment Assessment (ETEA), a brief, easily administered, 14-item self-assessment scale. The ETEA was assessed for validity, reliability and other clinimetric properties in 75 ET patients. Forty-seven tremor experts from eight countries were surveyed. On average, they estimated that 75% of their patients experienced embarrassment, yet there was very little agreement (range = 10-95%). Among ET patients, three-quarters (77.3%) reported at least occasional embarrassment due to their tremor and one-third (36.4%) reported daily embarrassment. ETEA scores correlated with a tremor disability questionnaire score (p = 0.02 and p = 0.01) and Center for Epidemiologic Studies Depression Scale scores (p<0.001 and p<0.001). Test-retest reliability was high (p<0.001). Factor analysis identified four factors, explaining 62.4% of the variance. For the major factors (I and II), high internal consistency was found (Cronbach's alpha = 0.85 and 0.74). Embarrassment is commonly experienced by ET patients. The ETEA is a reliable and valid tool to measure embarrassment in patients with this disease.
    Parkinsonism & Related Disorders 12/2010; 16(10):661-5. · 3.27 Impact Factor
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    Elan D Louis, Marina Gerbin, Mary M Mullaney
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    ABSTRACT: Tremor in the dominant arm is often the focus of clinical attention in essential tremor (ET) yet many daily activities require both arms. The functional relevance of nondominant arm tremor has rarely been studied. In 181 right-handed patients with ET, action tremor in each arm was rated using a clinical rating scale. Tremor disability was self-reported and a performance-based test of function was administered. Independently of tremor on the right, greater tremor severity on the left was associated with greater self-reported disability (P = 0.02) and greater performance-based dysfunction (P < 0.001). In 5.0% of patients, tremor was largely restricted to the nondominant arm. Nondominant arm tremor, independent of dominant arm tremor, had a significant functional correlate, contributing to both greater perceived and greater observable functional difficulty. In 5% of patients, tremor in the nondominant arm was the likely motivator for seeking care, which is another indication of its functional significance. © 2010 Movement Disorder Society.
    Movement Disorders 11/2010; 25(15):2674-8. · 5.63 Impact Factor