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 report the case of a man who had an insidious onset of asymmetrical distal muscle weakness of the upper extremity at the age of 17. Objective findings were 1) muscular atrophy of calf and forearm flexor muscles and intrinsic hand muscles; 2) fasciculations; and 3) hand tremor. EMG and muscle biopsy showed neurogenic changes. MRI of the medulla and plasma creatine kinase were normal. Genetic testing for SMA-III was negative.
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PMID:[Juvenile asymmetrical segmental spinal muscular atrophy]. 1222 8

Hyperactivity in the subthalamic nucleus (STN) is seen in animal models of Parkinson's disease, and lesioning of the STN dramatically relieves the animal's parkinsonism. Deep brain stimulation (DBS) of the STN is an effective treatment for patients with advanced Parkinson's disease. We have studied the effects of a unilateral lesion placed in the STN in predominantly hemi-parkinsonian patients. Twenty-one patients with advanced idiopathic Parkinson's disease were studied. Seventeen had asymmetrical tremor-dominant Parkinson's disease and four had bilateral disease. All patients underwent radiofrequency lesioning of the dorsolateral part of the STN under stereotactic guidance. The four patients with bilateral disease had, in addition, an electrode implanted contralaterally in the STN. Twenty-one patients have been followed for a minimum of 12 months. Clinical evaluation included the use of the Unified Parkinson's Disease Rating Scale (UPDRS) before and after surgery. Post-operative high-resolution MRI was performed in each patient to confirm lesion location, and this was correlated with clinical outcome. There was improvement in contralateral tremor, rigidity and bradykinesia in all patients followed for 6, 12 and 24 months, with the effect on tremor being greatest. L-dopa equivalent daily intake was approximately halved, and this resulted in a significant reduction in dyskinesia. Psychometric test scores were mostly unchanged or improved. All lesions were successfully located in the dorsolateral STN. Nineteen of the 21 lesions extended beyond the STN to involve pallidofugal fibres (H2 field of Forel) and the zona incerta (ZI). Lesion-induced dyskinesias were not a management problem except in one patient, whose lesion was confined to the STN. This patient was successfully treated with deep brain stimulator placement in the region of H2/ZI. Unilateral STN lesions can be made safely and are an effective alternative to thalamotomy, pallidotomy and unilateral STN DBS for the treatment of asymmetrical tremor-dominant advanced Parkinson's disease. Com bined lesioning of the dorsolateral STN and H2/ZI is particularly effective.
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PMID:Unilateral subthalamotomy in the treatment of Parkinson's disease. 1269 53

A 78-year-old Korean woman was referred to Chonbuk National University Dental Hospital complaining of facial palsy and palpable mass in the right parotid gland area for 4 years. Clinical examination showed an asymmetrical facial appearance due to a 4 cmx5 cm hard, fixed, non-tender mass in the right parotid gland area, incomplete eye closure and a slight tremor at the corner of the mouth. A panoramic radiograph showed an amorphous calcified mass on the posterior mandibular ramus with thinning of the cortical plate adjacent to the mass. A sialogram showed constriction of the main duct and no further filling of striated, intercalated ducts and parenchymal areas. CT indicated an expansile mass with slight contrast enhancement involving the right parotid gland. The large mass showed necrotic areas and calcifications. A bone scan showed marked accumulation of (99)Tc(m)-methylene diphosphonate on the right posterior maxilla. Microscopic findings revealed minimal morphological alterations and rare mitotic figures within tumour cells, and the lesion was diagnosed as adenocarcinoma not otherwise specified (NOS, grade II).
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PMID:Adenocarcinoma of the parotid gland with calcification. 1277 69

Parkinson's disease (PD) is characterized by a minimum of two of three features: tremor, rigidity, and bradykinesia. Asymmetry of these features is often considered to support a diagnosis of PD in contrast to other parkinsonian syndromes. All major manifestations of PD are often more pronounced on the side first manifesting features of PD. Significant dissociation of features on the contralateral side, along with other variants of presentation involving the contralateral side, are rarely observed. To determine the frequency and significance of unusual asymmetry in parkinsonism, we retrospectively examined 613 patients clinically diagnosed as idiopathic PD for presence of unusual asymmetries of clinical features. Three groups of patients with unusual asymmetrical clinical findings were identified. Group 1 comprised 10 patients followed for an average of 6 years presenting with rest tremor most prominent in one lower limb and contralateral upper limb. Group 2 comprised 24 patients followed for an average of 5.5 years with action tremor most prominent on the side contralateral to the side of most prominent rest tremor. Group 3 comprised 33 patients followed for an average of 10 years who had parkinsonian signs of greatest severity on one side but subsequently, over an average of 5.4 years, became gradually more prominent on the opposite side. In Group 3, 15 of 33 patients (45%) demonstrated evolution to a rigid form of parkinsonism with disappearance of rest tremor over an average of 7.1 years after presentation. A small percentage (11%) of Parkinson's patients in our clinic demonstrated anomalous asymmetrical clinical findings, which indicates that (1) the disease process may begin in different topographic sites on each side; (2) rest tremor and action tremor may have different anatomical bases; (3) the disease process may progress at different rates on different sides; and (4) tremor becomes less pronounced with progression of disease in some patients with Parkinsonism.
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PMID:Anomalies of asymmetry of clinical signs in parkinsonism. 1497 69

We report on a 28-year-old man who presented with right hand tremor, bradykinesia, and rigidity of his right side extremities. Our case report emphasizes that markedly asymmetrical parkinsonism can be an initial presentation of adult-onset Huntington's disease (HD), and different clinical presentations can be observed in members of an individual HD family with the same CAG repeat length.
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PMID:Markedly asymmetrical parkinsonism as a leading feature of adult-onset Huntington's disease. 1525 54

Brain single photon emission computed tomography (SPECT) studies were conducted in three patients with A3243G mutation of the mitochondrial (mt) DNA tRNA. All were born to mothers suffering from chronic progressive external ophthalmoplegia (CPEO) with the same A3243G point mutation of the mtDNA tRNA. The first case manifested clinically with MELAS, the second case manifested with CPEO, and third case was characterized by recurrent migraine-like headache, tremor, and epilepsy. Brain SPECT of all patients, regardless of whether they had or had not suffered from stroke-like episodes, showed multiple areas of asymmetrical decreased perfusion, particularly in the posterior and lateral head regions, especially the temporal lobes. Crossed-cerebellar diaschisis may occur. Conventional brain magnetic resonance images failed to show some of the lesions. Decreased regional cerebral blood flow, rather than previously proposed hyperemia, is likely to be the cause. We conclude that mitochondrial vasculopathy with regional cerebral hypoperfusion may be seen on brain SPECT in patients with mitochondrial disorders and A3243G mutations, regardless of whether they have or have not suffered from stroke-like episodes.
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PMID:Brain single photon emission computed tomography in patients with A3243G mutation in mitochondrial DNA tRNA. 1596 44

We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's disease where affected subjects share a Y1699C missense mutation we provide a detailed clinical, pathological and imaging report. The phenotype in this large British kindred included asymmetrical, levodopa-responsive parkinsonism where unilateral leg tremor at onset and foot dystonia were prominent features. There was no significant abnormality of cognition but there was prominent behavioural disorder. We observed a lower age of onset in successive generations. Histopathology in one patient showed substantia nigra cell loss and Lewy body formation, with small numbers of cortical Lewy bodies. 18F-dopa positron emission tomography (PET) in another patient showed a pattern of nigrostriatal dysfunction typical of idiopathic Parkinson's disease. 18F-dopa-PET scans in unaffected family members prior to identifying the disease locus did not detect subclinical nigrostriatal dysfunction. Olfaction was assessed in affected subjects and Lewy bodies were identified in the olfactory bulb as well as cortex and brainstem of one deceased patient. In order to assess the role of mutations in this gene in other familial cases we undertook a mutation screen of all 51 exons of LRRK2 in 117 other smaller British kindreds with familial Parkinson's disease. The commonest mutation was G2019S and we also identified two novel mutations, R1941H and T2356I, in the coding sequence. These data suggest that parkinsonism caused by mutations in LRRK2 is likely to represent the commonest locus for autosomal dominant Parkinson's disease with a phenotype, pathology and in vivo imaging similar to idiopathic, late-onset Parkinson's disease.
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PMID:Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. 1631 Dec 69

Aim of this study was to determine sensitivity and specificity of the mastoid vibration test in patients who had suffered an attack of vestibular neuritis. Results were compared with the caloric test and two bedside tests of vestibular function (head shaking test and head thrust test). Results are reported in 28 patients who had a residual vestibular deficit 6 months after acute neuritis and in 25 healthy subjects. Mastoid vibration nystagmus was evoked in 21 patients but not in controls. In these patients, mastoid vibration test had a sensitivity of 75% and specificity of 100%. Since one patient had inverted mastoid vibration nystagmus, specificity of identification on the pathological side was 95%. Sensitivity of the test increased with increasing severity of the vestibular lesion. Indeed, mastoid vibration nystagmus was induced in 93% of patients with caloric paralysis and in 58% of those with caloric paresis. Nystagmus could usually be modulated or elicited by stimulation of either mastoid. In the few patients in whom mastoid vibration nystagmus was elicited only from one side, or when there was a clear difference in intensity of the nystagmus induced on the two sides, the stimulated side was more often the affected side. Four patients still showed spontaneous nystagmus. The caloric test was abnormal in 26/28 patients (93%) with paralysis in 16 and paresis in 12; 71% of patients had a head shaking induced nystagmus: 64% had an asymmetrical response in head thrust test. In conclusion, mastoid vibration test was overall more sensitive than head thrust test. Mastoid vibration test was slightly less sensitive than head shaking test in patients with severe residual deficit and more sensitive in patients with partial deficit. Mastoid vibration test, a valid, low cost clinical screening test for rapid detection of asymmetrical vestibular function, does not cause patient discomfort. It is suggested that this test be included in the diagnostic workup of all patients with suspected vestibular dysfunction.
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PMID:Sensitivity and specificity of mastoid vibration test in detection of effects of vestibular neuritis. 1660 25

The clinical criteria of Parkinson's disease are akinesia in combination with at least one of the following three symptoms: tremor (asymmetrical resting tremor), rigidity, impairment of posture, gait and balance. Symptomatic and atypical parkinsonian syndromes are ruled out by history, clinical examination, cranial CT, MRI, SPECT or PET. Patients with Parkinson's disease respond to levodopa or dopaminagonists throughout the course of the disease. Parkinson's disease is also characterised by various vegetative symptoms, impairment of olfaction, anxiety, depression, and with increasing age also by cognitive deficits and dementia.
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PMID:[Clinical criteria of Parkinson's disease]. 1722 18

Although normal subjects do not move during REM sleep, patients with Parkinson's disease may experience REM sleep behaviour disorder (RBD). The characteristics of the abnormal REM sleep movements in RBD have, however, not been studied. We interviewed one hundred consecutive non-demented patients with Parkinson's disease and their bed partners using a structured questionnaire assessing the presence of RBD. They rated the quality of movements, voice and facial expression during RBD as being better, equal or worse than in awake ON levodopa condition. Night-time sleep and movements were video-monitored during polysomnography in 51 patients to evaluate the presence of bradykinesia, tremor and hypophonia during REM sleep. Fifty-nine patients had clinical RBD with 53/59 bed partners able to evaluate them. All 53 (100%) reported an improvement of at least one component of motor control during RBD. By history, movements were improved in 87% patients (faster, 87%; stronger, 87%; smoother, 51%), speech was better in 77% patients (more intelligible, 77%; louder, 38%; better articulated, 57%) and facial expression was normalized in 47% patients. Thirty-eight per cent of bed partners reported that movements were 'much better', even in the most disabled patients. The video-monitored purposeful movements in REM sleep were also surprisingly fast, ample, coordinated and symmetrical, without obvious sign of parkinsonism. The movements were, however, jerky, violent and often repetitive. While all patients had asymmetrical parkinsonism when awake, most of the time they used the more disabled arm, hand and leg during the RBD (P = 0.04). Movements involved six times as often the upper limbs and the face as the lower limbs (OR: 5.9, P = 0.004). The percentage of time containing tremor EMG activity decreased with sleep stages from 34.9 +/- 15.5% during wakefulness, to 3.6 +/- 5.7% during non-REM sleep stages 1-2, 1.4 +/- 3.0% during non-REM sleep stages 3-4, and 0.06 +/- 0.2% during REM sleep (in this last case, it was subclinical tremor). The restored motor control during REM sleep suggests a transient 'levodopa-like' reestablishment of the basal ganglia loop. Alternatively, parkinsonism may disappear by REM sleep-related disjunction between pyramidal and extrapyramidal systems. We suggest the following model: the movements during the RBD would be generated by the motor cortex and would follow the pyramidal tract bypassing the extrapyramidal system. These movements would eventually be transmitted to lower motor neurons because of brainstem lesions interrupting the pontomedullary pathways which mediate the REM sleep atonia.
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PMID:Restoration of normal motor control in Parkinson's disease during REM sleep. 1723 26


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