The goal of this observational study is to learn about epidemiology, biologic markers, disease subtypes and possible prognostic factors in essential tremor (ET) patients. The main question\[s\] it aims to answer are: * The prevalence of ET-plus compared to ET in a prospectively collected ET population. * To assess in detail the heterogenous group of ET patients using comprehensive clinical (motor and non-motor scales, questionnaires), imaging \[magnetic resonance imaging (MRI), sonography of substantia nigra and cerebral vessels\], neurophysiological (tremor analysis, digital spiral drawing) and laboratory markers (sGFAP, sNfL, routine laboratory parameters). * To assess possible non-invasive markers of neurodegeneration in ET patients (optic coherence tomography, alpha-synuclein in olfactory mucosa) Participants will be asked to undergo the above mention evaluation at baseline and at follow-up approx. 5 years later. Researchers will compare the findings within the ET group to independently existing cohorts of healthy controls and/or patients with other movement disorders like Parkinson's disease.
Study Type
OBSERVATIONAL
Enrollment
100
see previous descriptions
Medical University of Graz
Graz, Austria, Austria
Prevalence of ET-plus
Determine the prevalence of ET-plus within a prospectively collected ET population
Time frame: approx. 2 years
Age of ET patients
age at disease onset and age at baseline
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Sex of ET patients
male, female, other
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Family history
positive or negative for essential tremor or Parkinson's disease
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Symptom leading to ET-plus classification
e.g. rest tremor, impaired tandem gait, mild parkinsonian signs, questionable dystonia, mild cognitive impairment
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
current and former medication for essential tremor
e.g. propranolol yes vs no, topiramate yes vs no, primidone yes vs no
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
subjective disease course of ET
no progression, slowly and continuously, relapsing, plateau-like after initial progression, rapidly progressive
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
responsivity to alcohol
amelioration of tremor severity after consumption of alcohol (yes vs. no vs. unknown)
Time frame: 1 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
presence of cardiovascular risk factors
arterial hypertension yes vs. no, hyperlipidemia yes vs. no, smoking yes vs. no vs. former, diabetes mellitus yes vs. no, coronary artery disease yes vs. no
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
MDS-UPDRS (Movement Disorder Society Unified Parkinson's Disease Rating Scale) parts I-IV
rates clinical severity of parkinsonian symptoms, range 0-260 points with higher points meaning more severe symptoms
Time frame: 20-30 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
modified Essential Tremor Rating Assessment Scale (mTETRAS)
rates clinical severity of ET symptoms, ranging from 0-80 (the "modified" means the inclusion of 2 additional items rating rest tremor) with higher points meaning more severe motor symptoms; also includes a subscale rating activities of daily living ranging from 0-48 points with more points meaning more severe disability due to ET
Time frame: 10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Scale for the assessment and rating of ataxia (SARA)
assesses symptoms of ataxia, ranging from 0 (no ataxia) to 40 (most severe ataxia)
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Verbal fluency animals (part of the CERAD-plus test battery)
patients needs to say as many animals as possible within 1 minute, the more, the better
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Boston Naming Test (part of the CERAD-plus test battery)
the patient needs to name 15 items (shown as pictures) correctly, the more, the better
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Mini Mental State Examination Test (MMSE; part of the CERAD-plus test battery)
a cognitive screening test with a minimum of 0 and a maximum of 30 points
Time frame: 3-5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
word list learning (part of the CERAD-plus test battery)
the patient is shown 10 words which he needs to remember and repeat immediately after reading them (within 90 seconds); there a three tries; the more he remembers, the better
Time frame: 10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
constructive praxis (part of the CERAD-plus test battery)
the patient needs to draw 4 figures from a model which are then rated according to prespecified criteria (maximum of 11 points, the more the better)
Time frame: 20-30 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
word list recall (part of the CERAD-plus test battery)
the patient needs to remember as many of the 10 words learned in "word list learning"; time limit 90 seconds
Time frame: 90 seconds; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
word list recognition (part of the CERAD-plus test battery)
the patient needs decide whether a word shown to him was part of the 10 words learned before; there a 20 words in total, and 10 each were part of the learned words while 10 where not; the more he/she remembers correctly, the better (1 point for each correctly identified word)
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
constructive praxis recall (part of the CERAD-plus test battery)
the patients needs to draw the 4 figures from "constructive praxis" from memory; they are then rated according to the same criteria with a maximum of 11 points
Time frame: 3-4 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Trail Making Test A (part of the CERAD-plus test battery)
the patient needs to connect numbers in ascending order from 1 to 25, time is measured in seconds (the faster, the better)
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Trail Making Test B (part of the CERAD-plus test battery)
the patient needs to connect numbers and letters in ascending and alternating order from 1 to 13 and A to L, respectively, time is measured in seconds (the faster, the better)
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
s-words (part of the CERAD-plus test battery)
the patient needs to list as many words starting with the letter "s" within 60 seconds as possible; the more the better
Time frame: 1 minute; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Frontal Assessment Battery (FAB)
a neuropsychological test focusing on executive function, ranging from 0 (most impaired) to 18 (normal)
Time frame: 5 - 10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Geriatric Depression Scale (GDS)
a short questionnaire rating depressive symptoms, ranging from 0 (no depressive symptoms) to 15 (most severe depressive symptoms)
Time frame: 3-5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Hospital Anxiety and Depression Scale (HADS)
a questionnaire rating anxiety and depressive symptoms, ranging from 0 (no depressive/anxious symptoms) to 42 (most severe symptoms)
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Non-Motor Symptoms Scale for Parkinson's Disease (NMSS)
a questionnaire rating non motor symptoms, ranging from 0 (no symptoms) to 128 (most severe non motor symptoms)
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
RBD Screening Questionnaire
rates probability for the presence of RBD (REM sleep behavior disorder) using 13 questions; points are given from 0 to 13 with higher points indicating a higher probability for RBD
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Global Physical Activity Questionnaire (GPAQ)
the GPAQ is a questionnaire provided by the WHO and rates the extent of physical (-in-) activity; rating is done according to the WHO manual available from the WHO website
Time frame: 5-7 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Quality of Life in Essential Tremor Questionnaire (QUEST)
a questionnaire rating quality of life specifically in ET patients; ranging from 0 (best quality of life) to 120 points (worst quality of life)
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
University of Pennsylvania Smell Identification Test (UPSIT)
a smell test ranging from 0 (worst olfactory function) to 40 points (best olfactory function)
Time frame: 10-15 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Montreal Cognitive Assessment (MOCA)
a screening cognitive test rating cognitive dysfunction from 0 (worst) to 30 (best)
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Auditory verbal learning test
assesses how well patients can remember 15 words after hearing them; the more they can remember, the better
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Symbol Digit Modalities Test (SDMT)
patients need to translate specific symbols into numbers (1-9) using a key; they more the can translate in 90 seconds, the better
Time frame: 90 seconds; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Brief Visuospatial Memory Test
patients can look at 6 figures for 10 seconds each, then they have to reproduce them; 3 trials; the more they remember, the better
Time frame: 2-3 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Comprehensive trail making test 4
patients have to connect numbers (1 to 21) in ascending order with lines; time is measured in seconds; the faster, the better
Time frame: 1-2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Comprehensive trail making test 5
patients have to connect numbers (1 to 13) and letters (A to L) in ascending order and alternatingly with lines; time is measured in seconds; the faster, the better
Time frame: 1-2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Regensburg word fluency test
patients have to list words starting with "g" or "r" alternatingly or things within the categories of "clothes" or "flowers" alternatingly; they have 1 minute for each of the two tasks, the more they can list, the better
Time frame: 2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
EQ-5D
a quick questionnaire (5 questions) rating quality of life, ranging from 0 (very bad) to 1 (best)
Time frame: 1-2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
resilience scale (RS-13)
a quick questionnaire rating resilience, ranging from 13 (least resilience) to 91 points (highest resilience)
Time frame: 1-2 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Pittsburgh Sleep Quality Index (PSQI)
a quick questionnaire rating sleep quality, ranging from 0 (best sleep) to 21 points (worst sleep quality)
Time frame: 3-4 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Digital Spiral Drawing
patients are asked to draw Archimedes spirals (a total of 4, 2 with each hand) on a standard tablet PC using a touchpen; the process is done using a free available website-based application (http://www.trsper.com/); the main outcome is visual rating of the spirals ranging from 0 (perfectly normal) to 9 (worst spiral)
Time frame: 2-3 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Schellong Test
blood pressure test for orthostatic hypotension; blood pressure is measured non-invasively using a automatic device at the left arm in seating position and after 1 and 3 minutes of standing; orthostatic hypotension is defined as a drop in systolic blood pressure of 20mmHg or more and/or of diastolic blood pressure of 10mmHg or more
Time frame: 3.5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
serum glial fibrillary acidic protein (sGFAP)
sGFAP-level is measured from serum using SIMOA-technology
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
serum neurofilament light (sNfL)
sNfL-level is measured from serum using SIMOA-technology
Time frame: 5 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Transcranial sonography
the presence of hyperechogenicity (yes/no and area in cm2) of the substantia nigra is measured using transcranial sonography
Time frame: 10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
tremor analysis
tremor frequency and total tremor power are measured
Time frame: 20 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
white matter hyperintensities (volume in mm3)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
presence of lacunes (number of)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
cerebral microbleeds (number of)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
volumetry of total brain and regions (in mm3)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
Diffusion tensor imaging parameters (fractional anisotropy, mean diffusivity, radial diffusivity)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
cerebral MRI
nigrosome-1-imaging (presence of swallow tail sign yes vs. no)
Time frame: 45 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
optic coherence tomography (OCT)
thickness of retinal nerve fiber layer in both eyes and each quadrant and in vicinity of the macula and papilla
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
optic coherence tomography (OCT)
thickness of ganglion cell layer in both eyes and each quadrant and in vicinity of the macula and papilla
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
optic coherence tomography (OCT)
thickness of inner plexiform layer in both eyes and each quadrant and in vicinity of the macula and papilla
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
optic coherence tomography (OCT)
thickness of choroidea in both eyes and each quadrant and in vicinity of the macula and papilla
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
Olfactory mucosa swab
swab of the olfactory mucosa testing for alpha-synuclein using a seeding assay (outcome: presence of misfolded alpha-synuclein yes vs. no)
Time frame: 5-10 minutes; Baseline (recruiting time approx. 2 years) and follow-up (5 years after individual baseline)
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