Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We review the techniques of physiological localization of the site for ventralis intermedius (Vim) thalamotomy or implantation of Vim-deep brain stimulation (DBS) for treatment of parkinsonian, essential, and intention tremor. Both microelectrode and semi-microelectrode techniques are reviewed. We believe the use of microelectrode and semi-microelectrode recordings in combination with Radiological landmarks provide the most accurate localization of the target. In addition to recording, microstimulation of subcortical structures such as Vim and thalamic nucleus ventralis caudal through the microelectrode may improve physiological identification by altering the tremor and evoking somatic sensations, respectively. Microelectrode recording provides the highest resolution picture of the target site at a cost of increased time to locate the target. We also review the relationship between thalamic neuronal firing and electromyographic activity during tremor. Implications of these results for the mechanisms for parkinsonian, essential, and intention tremors are discussed.
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PMID:Intraoperative microelectrode and semi-microelectrode recording during the physiological localization of the thalamic nucleus ventral intermediate. 1194 68

Kinetic tremor recorded with a laser system during a compensatory tracking task of the index finger was analyzed in 21 patients with PD whose tremor amplitude was between low and moderate, and 30 control subjects. Nine characteristics quantifying the tracking task and tremor including mean tracking error, reaction time, peakedness, harmonicity, median frequency, proportional power in the 3-4 Hz, 4-6 Hz and 7-12 Hz ranges, and power at 0.25 Hz, were applied to the processed signal. The discriminating power of each characteristic was evaluated using differences between group means (p values), maximum percentage discrimination, and number of outliers in the patient group using z-score and 96.7(th) percentile of the control group. All nine characteristics showed significant differences between means of the two groups using Welch-modified t-tests for unequal variances. The most discriminating characteristics reflected differences in the frequency distribution of the movement and did not correlate highly with postural tremor amplitude nor with clinical ratings of tremor. Discrimination methods classified correctly up to 66.7 p.cent of the patients. Combining representative information about proportional power during posture and tracking gave a much higher discrimination (90 p.cent) with respect to the 96.7th percentile of the control group. These results suggest that by combining information coming from postural and kinetic tremors it is possible to isolate a specific aspect of PD symptomatology which could be used to reevaluate the classic distinction made between the akineto-rigid and tremulous forms of PD independently of tremor amplitude.
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PMID:[Characterization and discrimination of kinetic tremor in Parkinson's disease]. 1197 93

We present a series of 26 patients, all >50 years of age, who are carriers of the fragile X premutation and are affected by a multisystem, progressive neurological disorder. The two main clinical features of this new syndrome are cerebellar ataxia and/or intention tremor, which were chosen as clinical inclusion criteria for this series. Other documented symptoms were short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower limb proximal muscle weakness, and autonomic dysfunction. Symmetrical regions of increased T2 signal intensity in the middle cerebellar peduncles and adjacent cerebellar white matter are thought to be highly sensitive for this neurologic condition, and their presence is the radiological inclusion criterion for this series. Molecular findings include elevated mRNA and low-normal or mildly decreased levels of fragile X mental retardation 1 protein. The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders.
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PMID:Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. 1499 46

Recent studies have reported that alleles in the premutation range in the FMR1 gene in males result in increased FMR1 mRNA levels and at the same time mildly reduced FMR1 protein levels. Some elderly males with premutations exhibit an unique neurodegenerative syndrome characterized by progressive intention tremor and ataxia. We describe neurohistological, biochemical and molecular studies of the brains of mice with an expanded CGG repeat and report elevated Fmr1 mRNA levels and intranuclear inclusions with ubiquitin, Hsp40 and the 20S catalytic core complex of the proteasome as constituents. An increase was observed of both the number and the size of the inclusions during the course of life, which correlates with the progressive character of the cerebellar tremor/ataxia syndrome in humans. The observations in expanded-repeat mice support a direct role of the Fmr1 gene, by either CGG expansion per se or by mRNA level, in the formation of the inclusions and suggest a correlation between the presence of intranuclear inclusions in distinct regions of the brain and the clinical features in symptomatic premutation carriers. This mouse model will facilitate the possibilities to perform studies at the molecular level from onset of symptoms until the final stage of the disease.
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PMID:The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. 1270 Jan 64

Experimental and clinical data indicate that the cerebellum is involved in the pathophysiology of advanced stages of essential tremor (ET). The aim of this study was to determine whether a dysfunction also affects cerebellar structures involved in eye movement control. Eye movements of 14 patients with ET and 11 age-matched control subjects were recorded using the scleral search-coil technique. Vestibular function was assessed by electro-oculography. Eight ET patients had clinical evidence of intention tremor (ET(IT)); six had a predominantly postural tremor (ET(PT)) without intention tremor. ET patients showed two major deficits that may indicate cerebellar dysfunction: (i) an impaired smooth pursuit initiation; and (ii) pathological suppression of the vestibulo-ocular reflex (VOR) time constant by head tilts ('otolith dumping'). In the step ramp smooth pursuit paradigm, the initial eye acceleration in the first 60 ms of pursuit generation was significantly reduced in ET patients, particularly in ET(IT) patients, by approximately 44% (mean 23.4 degrees/s(2)) compared with that of control subjects (mean 41.3 degrees/s(2)). Subsequent steady-state pursuit velocity and sinusoidal pursuit gain (e.g. 0.4 Hz: 0.90 versus 0.78) were also significantly decreased in ET patients, whereas pursuit latency was unaffected. The intention tremor score correlated with the pursuit deficit, e.g. ET(IT) patients were significantly more affected than ET(PT) patients. Gain and time constant (tau) of horizontal VOR were normal, but suppression of the VOR time constant by head tilt ('otolith dumping') was pathological in 41% of ET patients, particularly in ET(IT) patients. Saccades and gaze-holding function were not impaired. The deficit of pursuit initiation, its correlation with the intensity of intention tremor, and the pathological VOR dumping provide additional evidence of a cerebellar dysfunction in the advanced stage of ET, when intention tremor becomes part of the clinical symptoms, and point to a common pathomechanism. The oculomotor deficits may indicate an impairment of the caudal vermis in ET.
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PMID:Eye movement abnormalities in essential tremor may indicate cerebellar dysfunction. 1276 54

Holmes tremor is characterized by resting, postural, and intention tremor. Deep brain stimulation (DBS) of both the nucleus ventralis intermedius (Vim) and the subthalamic nucleus (STN) may be required to control these three tremor components. A 79-year-old man presented with a long-standing combination of resting, postural, and intention tremor, which was associated with severe disability and was resistant to medical treatment. Neuroimaging studies failed to reveal areas of discrete brain damage. A DBS device was placed in the Vim and produced an improvement in both the intention and postural tremor, but there was residual resting tremor, as demonstrated by clinical observation and quantitative tremor analysis. Placement of an additional DBS device in the STN resolved the resting tremor. Stimulation of the Vim or STN alone failed to produce global resolution of mixed tremor, whereas combined Vim-STN stimulation produced global relief without creating noticeable side effects. Combined Vim-STN stimulation can thus be a safe and effective treatment for Holmes tremor.
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PMID:Possible necessity for deep brain stimulation of both the ventralis intermedius and subthalamic nuclei to resolve Holmes tremor. Case report. 1295 46

Fragile X syndrome is a neurodevelopmental disorder that is not known to have any progressive neurological sequelae in adulthood. However, a neurological condition involving intention tremor, ataxia, and cognitive decline has recently been identified among older male carriers of premutation alleles of the FMR1 gene. This condition is clinically distinct from fragile X syndrome and arises through a different molecular mechanism involving the same gene (FMR1). Characteristic findings on magnetic resonance imaging include cerebral and cerebellar volume loss and altered signal intensities of the middle cerebellar peduncles. A striking feature of this fragile X-associated tremor/ataxia syndrome is the presence of ubiquitin-positive neuronal and astroglial intranuclear inclusions. Unlike the CAG repeat expansion diseases, which lead to altered protein products, there is no known protein abnormality among FMR1 premutation carriers. Thus, inclusion formation may reflect a gain-of-function effect of the FMR1 mRNA or the CGG repeat itself. Finally, since this syndrome may represent one of the more common single-gene causes of tremor, ataxia, and dementia among older males, FMR1 DNA testing should be considered when evaluating adult patients with tremor/ataxia.
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PMID:A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. 1452 82

The effect of visual information on step-tracking movements was studied in 18 patients with intention tremor due to multiple sclerosis (MS) and 15 healthy controls. Parricipants performed a slow wrist step-tracking task with stationary targets under five visual feedback conditions. The display of the target and movement cues was selectively withdrawn to examine the effects of visual information on intention tremor and movement accuracy. Results showed that intention tremor was most pronounced when visual display of both target and movement cues was available. Withdrawing visual information of the limb movement reduced tremor more than withdrawing the visual display of the target cues. Both the patient and control group was less accurate when the display of limb movement was occluded. Patients, however, were more dependent on visual information of the limb movement for accurate motor performance than healthy controls. When the visual display of the limb movement was partially occluded between or near to the targets, tremor decreased without deterioration of movement accuracy.
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PMID:Effect of visual information on step-tracking movements in patients with intention tremor due to multiple sclerosis. 1458 76

A single monkey was trained to perform a grasp, lift, and hold task in which a stationary hand- held object was sometimes subjected to brief, predictable force-pulse perturbations. The displacement, grip, and lifting forces were measured as well the three-dimensional forces and torques to quantify specific motor deficits after reversible inactivation of the cerebellar nuclei. A prior single-cell recording study in the same monkey provided the stereotaxic coordinates used to guide intranuclear injections of muscimol. In total, 34 penetrations were performed at 28 different loci throughout the cerebellar nuclei. On each penetration, two 1.0-microl injections of 5 microg/microl muscimol, were made 1.0 mm apart either within the nuclei or in the white matter just lateral or posterior to the dentate nucleus. Injections in the region corresponding to the anterior interpositus nucleus produced pronounced dynamic tremor and dysmetric movements of the ipsilateral arm when the animal performed unrestrained reaching and grasping movements. In contrast, no relatively short-latency (15-20 min.) deficits were observed after injection in the dentate nucleus, although some effects were observed after several hours. When tested in a primate chair with the forearm supported and restrained at the wrist and elbow, the monkey performed the lift and hold task without tremor or dysmetria. However, with the restraint removed, the forces and torques applied to the manipulandum were poorly controlled and erratic. The monkey's arm was ataxic and a 5-Hz intention tremor was clearly visible. In addition, the animal was generally unable to compensate for the predictable perturbations and the anticipatory grip force increases were absent. However, overall the results suggest that reversible cerebellar nuclear inactivation with muscimol has little effect on isolated distal movements of the wrist and fingers.
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PMID:Effects of muscimol inactivation of the cerebellar nuclei on precision grip. 1468 35

Carriers of fragile X mental retardation 1 (FMR1) premutation alleles (55 to 200 CGG repeats) are generally spared the more serious neurodevelopmental problems associated with the full-mutation carriers (>200 repeats) of fragile X syndrome. However, some adult male premutation carriers (55-200 repeats) develop a neurological syndrome involving intention tremor, ataxia, dementia, parkinsonism, and autonomic dysfunction. In excess of one-third of male premutation carriers over 50 years of age develop the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS also represents a new form of inclusion disease, with eosinophilic intranuclear inclusions found throughout the brain in both neurons and astrocytes. Because FXTAS appears to be relatively specific to male premutation carriers, who are known to possess elevated levels of FMR1 mRNA, the neuropathology may arise as a consequence of a toxic gain-of-function of the mRNA itself, although this proposal requires additional direct testing. One of the critical needs at present is a better estimate for the prevalence of this disorder, because FXTAS is likely to be underdiagnosed in the adult movement disorders clinics.
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PMID:Fragile X-associated tremor/ataxia syndrome (FXTAS). 1499 85


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