Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied essential tremor (ET) cases enrolled in the Essential Tremor Centralized Brain Repository to (1) assess the validity of their diagnoses and (2) characterize the clinical features in a group of highly selected cases who might reflect a far end of the disease spectrum. Our over-arching goal was to provide a perspective of ET that complements that derived from population-based and clinic-based studies. Based on a history and videotaped examination, 94 of 100 ET cases had their diagnoses confirmed; most of the remainder had Parkinson's disease. When compared with ET cases ascertained through populations and clinics, a large proportion had been prescribed medication for tremor (87.2%), had a family history of tremor (88.3%), had rest tremor (33.0%), or had neck tremor (60.6%). One patient had facial tremor, which has not been reported previously. As has been reported once before, a large proportion wore hearing aids (26.9% of the 67 participants age>or=70). In summary, diagnostic validity was high. In terms of their clinical characteristics, the high proportion of cases with severe tremor and varied disease manifestations (neck tremor, rest tremor) make these cases a valuable resource in pathological studies; the high proportion with familial tremor would provide an enriched sample for genetic studies.
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PMID:Essential tremor centralized brain repository: diagnostic validity and clinical characteristics of a highly selected group of essential tremor cases. 1600 7

Essential tremor (ET) is a common movement disorder causing an important functional disability. ET is generally regarded as a monosymptomatic disorder, but additional signs may be present. We analyzed postural sway in 19 patients with classic ET and in 19 sex- and age-matched normal controls (NC) to uncover possible abnormalities of balance control. Static posturography was performed with eyes open (EO) and closed during quiet stance and during performance of mental calculation or motor sequence of thumb opposition to the other fingers. No significant differences of center of foot pressure (COP) parameters were observed between patients and controls during quiet standing. Visual deprivation induced a similar worsening of postural sway in both groups. Concomitant performance of a cognitive or motor task did not affect COP area, whereas COP path was significantly modified by the cognitive task in both groups. In all EO conditions, the COP path was significantly lower in NC than in ET, but such offset was related only to the group of ET patients with head tremor. This study demonstrates that balance control is only minimally affected in ET, although patients with head involvement and longer disease duration tend to present a reduced postural stability. The "dual-task effect" is less important in ET than in Parkinson's disease patients.
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PMID:Posturographic analysis of balance control in patients with essential tremor. 1616 Nov 40

Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C-->G) in exon 7 of the hematopoietic-specific protein 1 binding protein 3 gene (HS1-BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C-->G variant in exon 7 of the HS1-BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild-type allele. The 828C-->G genetic variant in the HS1-BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1-BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown.
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PMID:HS1-BP3 gene variant is common in familial essential tremor. 1621 13

Tremor is one of the most common involuntary movement disorders seen in clinical practice. In addition to the detailed history, the differential diagnosis is mainly clinical based on the distinction at rest, postural and intention, activation condition, frequency, and topographical distribution. The causes of tremor are heterogeneous and it can present alone (for example, essential tremor) or as a part of a neurological syndrome (for example, multiple sclerosis). Essential tremor and the tremor of Parkinson's disease are the most common tremors encountered in clinical practice. This article focuses on a practical approach to these different forms of tremor and how to distinguish them clinically. Evidence supporting various strategies used in the differentiation is then presented, followed by a review of formal guidelines or recommendations when they exist.
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PMID:Differential diagnosis of common tremor syndromes. 1634 98

Essential tremor (ET) is a common neurological disorder. Its etiology and pathogenesis are not well understood and several environmental factors (i.e., toxicants) have been studied. Organochlorine pesticides (OCPs) are potent tremor-producing chemicals. These pervasive environmental contaminants have been linked with other tremor disorders (e.g., Parkinson's disease) but they have not been assessed in ET cases. Our objective was to test the hypothesis that ET is associated with OCP exposure. Serum OCP concentrations and lifetime occupational histories were assessed in ET cases and control subjects. Six serum OCP concentrations (p,p'-DDE, p,p'-DDT, beta-hexachlorocyclo-hexane, oxychlordane, trans-nonachlor, and dieldrin) were assessed. Data from a lifetime occupational history were reviewed by a blinded industrial hygienist. The six serum OCP concentrations were similar in 136 ET cases and 144 control subjects. There was no association in ET cases between the six serum OCP concentrations and total tremor score. Three (2.2%) ET cases versus 9 (6.3%) controls had past occupational exposure to OCPs (OR=0.34, 95% CI=0.09-1.28, p=0.10). Although OCPs have been associated with other tremor disorders, we were not able to find an association between the six most tremorogenic OCPs and ET. Our data suggest that these tremor-producing chemicals are not of major etiological importance in our patients with ET.
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PMID:Organochlorine pesticide exposure in essential tremor: a case-control study using biological and occupational exposure assessments. 1662 Sep 96

Essential tremor (ET) affects approximately 4% of the population above 65 years of age. The traditional view that ET is a familial monosymptomatic disorder with a benign prognosis has recently been challenged, as it is now known to be a progressive and clinically heterogeneous condition with sporadic and familial forms. The pathogenesis of ET is not fully understood, though a disordered central mechanism is the most likely site of origin with possible modulation by muscle adrenoreceptors. The limited post-mortem studies have not shown consistent abnormalities in the brains of ET patients. ET is often misdiagnosed as Parkinson's disease, particularly in the older population. Tremor amplitude increases with age, accounting for substantial disability in older people. Current therapy (drugs and neurosurgery) has significant limitations in older people. A better understanding of its pathophysiology in the future will help in developing more effective therapy, including neuroprotective strategies.
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PMID:Essential tremor-the most common movement disorder in older people. 1664 Nov 44

Essential tremor (ET), traditionally considered benign, is a serious neurologic condition with life-altering repercussions. Its involuntary, rhythmic oscillations involve alternating, irregular, or simultaneous contractions of agonist and antagonist muscles. It is the most common of the 20 known tremor disorders and often confused with Parkinson's disease. Numerous drugs can aggravate ET, and alcohol consumption may alleviate it. Its etiology is unknown. Proven drug treatments are currently limited to propranolol and primidone. This article reviews ET with examples from history to demonstrate points.
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PMID:Essential tremor: symptoms and treatment. 1854 Jul 90

Essential tremor (ET) is increasingly thought to involve a heterogeneous group of patients, with some also exhibiting symptoms of Parkinson's disease (PD), including cognitive deficits. The goal of this study was to utilize a broad battery of neuropsychological measures to compare the cognitive function of 33 ET patients with that of 33 matched PD patients and 21 normal controls. Results indicated that the ET group performed significantly worse than controls across multiple cognitive domains, but performed remarkably similar to PD patients, consistent with frontosubcortical dysfunction.
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PMID:Cognitive deficits in essential tremor consistent with frontosubcortical dysfunction. 1860 66

We recorded resting-state neuronal activity from the human subthalamic nucleus (STN) during functional stereotactic surgeries. By inserting up to five parallel microelectrodes for single- or multiunit recordings and applying statistical spike-sorting methods, we were able to isolate a total of 351 single units in 65 patients with Parkinson's disease (PD) and 33 single units in 9 patients suffering from essential tremor (ET). Among these were 93 pairs of simultaneously recorded neurons in PD and 17 in ET, which were detected either by the same (n = 30) or neighboring microelectrodes (n = 80). Essential tremor is a movement disorder without any known basal ganglia pathology and with normal dopaminergic brain function. By comparing the neuronal activity of the STN in patients suffering from PD and ET we intended to characterize, for the first time, changes of basal ganglia activity in the human disease state that had previously been described in animal models of Parkinson's disease. We found a significant increase in the mean firing rate of STN neurons in PD and a relatively larger fraction of neurons exhibiting burstlike activity compared with ET. The overall proportion of neurons exhibiting intrinsic oscillations or interneuronal synchronization as defined by significant spectral peaks in the auto- or cross-correlations functions did not differ between PD and ET when considering the entire frequency range of 1-100 Hz. The distribution of significant oscillations across the theta (1-8 Hz), alpha (8-12 Hz), beta (12-35 Hz), and gamma band (>35 Hz), however, was uneven in ET and PD, as indicated by a trend in Fisher's exact test (P = 0.05). Oscillations and pairwise synchronizations within the 12- to 35-Hz band were a unique feature of PD. Our results confirm the predictions of the rate model of Parkinson's disease. In addition, they emphasize abnormalities in the patterning and dynamics of neuronal discharges in the parkinsonian STN, which support current concepts of abnormal motor loop oscillations in Parkinson's disease.
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PMID:Neuronal activity of the human subthalamic nucleus in the parkinsonian and nonparkinsonian state. 1870 54

The various causes of tremor are considered by order of prevalence in the elderly. 1) Essential tremor occurs in 5% of the population beyond 65 years of age. It is characterized by a tremor accompanying muscle activity, and interesting, when complete, the two upper limbs, the head and the voice, with variable degree of severity. Its progression is very slow. The diagnostic criteria are only clinical, but require ruling out iatrogenic and metabolic causes. 2) Tremor in Parkinson's disease is opposed point by point to essential tremor. However, confusion may occur due to some intermediate clinical situations. In these cases, pharmacology or DaTSCAN data can help to distinguish between the two conditions. 3) Other causes are considered, giving the priority to practical and therapeutic aspects. The psychological consequences of tremor should be taken into account to improve the quality of life of patients with tremor. Terms which stigmatize, such as senile tremor, or terms which minimize the relational and social consequences of tremor, such as benign tremor, should be discarded.
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PMID:[Tremor in the elderly]. 1878 79


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