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)

Complex-regional pain syndromes (CRPS), formerly known as Sudeck's dystrophy and causalgia, belong to the neuropathic pain syndromes. CRPS may develop following fractures, limb trauma or lesions of the peripheral or central (CNS) nervous system. Occasionally, CRPS may also develop spontaneously. The clinical picture comprises a characteristic clinical triade of symptoms including autonomic (disturbances of skin temperature, colour, presence of sweating abnormalities), sensory (pain and hyperalgesia) and motor (paresis, tremor, dystonia) disturbances. Diagnosis is mainly based on clinical signs. However, additional laboratory, neurophysiological and radiological examinations may help to corroborate correct diagnosis. Several pathophysiological concepts have been proposed to explain the complex symptoms of CRPS: 1, facilitated neurogenic inflammation; 2, pathological sympatho-afferent coupling; 3, neuroplastic changes within the CNS. Furthermore, there is accumulating evidence that genetic factors may predispose for CRPS. Therapy is based on a multidisciplinary approach. Non-pharmacological approaches include physiotherapy and occupational therapy. Pharmacotherapy is based on individual symptoms and includes steroids, free radical scavengers, treatment of neuropathic pain, and finally agents interfering with bone metabolism (calcitonin, biphosphonates). Sympathetic blocks are useful for the treatment of sympathetically maintained pain. Invasive therapeutic concepts include implantation of spinal cord stimulators. This review covers new aspects of pathophysiology and therapy of CRPS.
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PMID:[Complex regional pain syndromes: new aspects on pathophysiology and therapy]. 1744 40

Vestibular compensation, or neuronal plasticity in the central vestibular system, is quite an important process in patients with acute unilateral peripheral vestibular disease, allowing them to lead a comfortable daily life when medical treatments fail to cure the peripheral vestibular function. Is the residual unilateral vestibular input from damaged vestibular endo-organs a positive or negative factor for the development of dynamic vestibular compensation in the central nervous system? To elucidate the true mechanism of vestibular compensation, we examined the ENG findings and dizziness handicap inventory questionnaire in patients with vestibular neuronitis (VN), sudden deafness with vertigo (SDV), Meniere's disease (MD) and acoustic tumor (AT) during remission of the vertigo attacks. We obtained neuro-otological findings from caloric tests and head shaking after nystagmus using ENG and information on motion-evoked dizziness in daily life using the questionnaire. There were no significant differences in the sex, age or canal paresis % (CP%) among the four groups. The results of the present study showed that dynamic vestibular compensation processes developed progressively in the order of patients with SDV, VN, MD and AT (Kruskal-Wallis : p < 0.05). This finding suggests that processes of dynamic vestibular compensation could be accelerated in patients with fixed vestibular lesions caused by SDV and VN more than in those with fluctuating vestibular functions caused by MD and AT. In patients with fixed vestibular lesions caused by SDV and VN, patients with lower CP% showed dynamic vestibular compensation (i.e. disappearance of head shaking after nystagmus (chi-square: p < 0.05) and motion-evoked dizziness (Mann-Whitney: p < 0.0005)) more rapidly than those with higher CP%. In patients with fluctuating vestibular functions caused by MD and AT, patients with lower CP% did not always develop dynamic vestibular compensation more smoothly than those with higher CP%.
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PMID:[Dynamic vestibular compensation in vestibular peripheral diseases]. 1806 76

There have been anecdotal reports since 1962 of 'staggers' in sheep grazing Romulea rosea infested pastures, but this is the first detailed account. In September 2005, a locomotor disorder developed in 12 of 120 Merino wethers that had grazed R. rosea infested pasture at Albury, New South Wales, over several months. Affected sheep displayed signs that included limb paresis, knuckling over in the fetlocks, fine head tremor, incoordination, and an equilibrium disturbance characterised by frequent falling. The microscopic examination of brain and spinal cord tissues from two affected sheep revealed mild vacuolation, occasional lymphocytic cuffing around blood vessels, mild Wallerian degeneration, and occasional glial cells that contained honey-brown cytoplasmic pigments. The most significant changes were found in the cerebellum, where there were decreased numbers of Purkinje cells, increased numbers of glial cells, scattered vacuoles and occasional swollen axons. Previous reports of cerebellar toxicoses in ruminants have involved goats and cattle and have been associated with the ingestion of six Solanum spp. The Purkinje cell loss in this type of disorder is ultimately extensive and consequently affected animals may survive, but will remain permanently disabled.
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PMID:Cerebellar ataxia in sheep grazing pastures infested with Romulea rosea (onion grass or Guildford grass). 1878 18

The neurotoxic forms of the prion protein (PrP) that cause neurodegeneration in prion diseases remain to be conclusively identified. Considerable evidence points to the importance of noninfectious oligomers of PrP in the pathogenic process. In this study, we describe lines of Tg(WT) transgenic mice that over-express wild-type PrP by either approximately 5-fold or approximately 10-fold (depending on whether the transgene array is, respectively, hemizygous or homozygous). Homozygous but not hemizygous Tg(WT) mice develop a spontaneous neurodegenerative illness characterized clinically by tremor and paresis. Both kinds of mice accumulate large numbers of punctate PrP deposits in the molecular layer of the cerebellum as well as in several other brain regions, and they display abnormally enlarged synaptic terminals accompanied by a dramatic proliferation of membranous structures. The over-expressed PrP in Tg(WT) mice assembles into an insoluble form that is mildly protease-resistant and is recognizable by aggregation-specific antibodies, but that is not infectious in transmission experiments. Together, our results demonstrate that noninfectious aggregates of wild-type PrP are neurotoxic, particularly to synapses, and they suggest common pathogenic mechanisms shared by prion diseases and nontransmissible neurodegenerative disorders associated with protein misfolding.
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PMID:Aggregated, wild-type prion protein causes neurological dysfunction and synaptic abnormalities. 1905 17

We report a patient who has a tremor and unilateral ptosis and mydriasis without extraocular muscle paresis from an intra-axial lesion demonstrated on neuroimaging. Previously extraocular muscles sparing partial third nerve palsy has been thought to be due to extra-axial lesion such as vascular compression. Compared to proposed models for arrangement of oculomotor fascicle, this case demonstrates that it is possible to damage the fibers destined for levator and pupillomotor function without affecting the extra-ocular muscles.
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PMID:Isolated unilateral ptosis and mydriasis from ventral midbrain infarction. 1939 Jul 69

The aim of this study was to investigate patients with Hirayama disease in mainland China. A total of 192 patients (167 males, 25 females) collected from mainland China were included. Their clinical features, electrophysiology, imaging, muscle biopsy and laboratory tests, treatments, and prognosis were analysed. We compared the results with data from other countries or regions. The mean age at onset was 16.8 years. Onset was insidious, with symptoms of muscle weakness and atrophy in the distal muscles of the upper limb. Tremor on finger extension was noted in 77.6% of patients and cold paresis in 81.3%. The clinical course plateaued within five years in 89.1% of patients. Time from disease onset to definitive diagnosis of our series is longer than that from other countries or regions. There is no geographically based difference in the clinical presentation of Hirayama disease. Thus, our study supports the notion that Hirayama disease is a benign self-limited disorder with juvenile preponderance and asymmetric muscular atrophy of the distal portion of the upper limb. Hirayama disease is under-recognized in mainland China.
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PMID:Clinical features of Hirayama disease in mainland China. 1941 15

A primary central nervous system vasculitis is an uncommon and invalidating disease, which has a fatal course if left untreated. We report a 63 year-old woman presenting with a history of two months of cognitive impairment, dysarthria, gait instability and tremor. After four months of evolution a right hemianopsia and a flaccid paresis of upper right limb appeared. A brain biopsy was performed and the histological findings confirmed the suspicion of primary cerebral vasculitis. The patient was treated with cyclophosphamide and prednisone, observing a partial recovery of cognitive and motor function.
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PMID:[Primary vasculitis of the central nervous system: report of one case]. 1974 83

Gaucher disease is caused by defective acid beta-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal GCase activity. To test the in vivo effects of saposin C on GCase, saposin C deficient mice (C-/-) were backcrossed to point mutated GCase (V394L/V394L) mice. The resultant mice (4L;C*) began to exhibit CNS abnormalities approximately 30 days: first as hindlimb paresis, then progressive tremor and ataxia. Death occurred approximately 48 days due to neurological deficits. Axonal degeneration was evident in brain stem, spinal cord and white matter of cerebellum accompanied by increasing infiltration of the brain stem, cortex and thalamus by CD68 positive microglial cells and activation of astrocytes. Electron microscopy showed inclusion bodies in neuronal processes and degenerating cells. Accumulation of p62 and Lamp2 were prominent in the brain suggesting the impairment of autophagosome/lysosome function. This phenotype was different from either V394L/V394L or C-/- alone. Relative to V394L/V394L mice, 4L;C* mice had diminished GCase protein and activity. Marked increases (20- to 30-fold) of glucosylsphingosine (GS) and moderate elevation (1.5- to 3-fold) of glucosylceramide (GC) were in 4L;C* brains. Visceral tissues had increases of GS and GC, but no storage cells were found. Neuronal cells in thick hippocampal slices from 4L;C* mice had significantly attenuated long-term potentiation, presumably resulting from substrate accumulation. The 4L;C* mouse mimics the CNS phenotype and biochemistry of some type 3 (neuronopathic) variants of Gaucher disease and is a unique model suitable for testing pharmacological chaperone and substrate reduction therapies, and investigating the mechanisms of neuronopathic Gaucher disease.
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PMID:Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. 2004 48

Limb-shaking is a specific clinical feature of transient ischaemic attacks that has been associated with a high-grade stenosis or occlusion of the internal carotid artery. The aim of this study was to describe the clinical characteristics of limb-shaking in patients with internal carotid artery occlusion and to investigate whether patients with limb-shaking have a worse haemodynamic state of the brain than patients with internal carotid artery occlusion without limb-shaking. We included 34 patients (mean age 62 + or - 7 years, 82% male) with limb-shaking associated with internal carotid artery occlusion and 68 sex- and age-matched controls with cerebral transient ischaemic attack or minor disabling ischaemic stroke associated with internal carotid artery occlusion, but without limb-shaking. We investigated clinical characteristics, collateral pathways on contrast angiograms and carbon dioxide-reactivity measured by transcranial Doppler. The results showed that limb-shaking usually lasted less than 5 min and was often accompanied by paresis of the involved limb. Compared with controls, patients with limb-shaking more frequently had symptoms precipitated by rising or exercise (odds ratio 14.2, 95% confidence interval 4.2-47.9), more frequently had recurrent ischaemic deficits after documented internal carotid artery occlusion (but before inclusion in the study) (odds ratio 8.2, 95% confidence interval 2.3-29.3), more often had leptomeningeal collaterals (odds ratio 6.8, 95% confidence interval 2.0-22.7), and tended to have a lower carbon dioxide-reactivity (mean 5% + or - 16 versus 12% + or - 17; odds ratio 0.97 per 1% increase in carbon dioxide-reactivity, 95% confidence interval 0.94-1.00). In conclusion, limb-shaking transient ischaemic attacks in patients with internal carotid artery occlusion can be recognized by their short duration, are often accompanied by paresis and precipitated by rising or exercise and are indicative of an impaired haemodynamic state of the brain.
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PMID:Limb-shaking transient ischaemic attacks in patients with internal carotid artery occlusion: a case-control study. 2015 11

Complex regional pain syndrome (CRPS), formerly known as Sudeck's dystrophy and causalgia, is a disabling and distressing pain syndrome. We here provide a review based on the current literature concerning the epidemiology, etiology, pathophysiology, diagnosis, and therapy of CRPS. CRPS may develop following fractures, limb trauma or lesions of the peripheral or CNS. The clinical picture comprises a characteristic clinical triad of symptoms including autonomic (disturbances of skin temperature, color, presence of sweating abnormalities), sensory (pain and hyperalgesia), and motor (paresis, tremor, dystonia) disturbances. Diagnosis is mainly based on clinical signs. Several pathophysiological concepts have been proposed to explain the complex symptoms of CRPS: (i) facilitated neurogenic inflammation; (ii) pathological sympatho-afferent coupling; and (iii) neuroplastic changes within the CNS. Furthermore, there is accumulating evidence that genetic factors may predispose for CRPS. Therapy is based on a multidisciplinary approach. Non-pharmacological approaches include physiotherapy and occupational therapy. Pharmacotherapy is based on individual symptoms and includes steroids, free radical scavengers, treatment of neuropathic pain, and finally agents interfering with bone metabolism (calcitonin, biphosphonates). Invasive therapeutic concepts include implantation of spinal cord stimulators. This review covers new aspects of pathophysiology and therapy of CRPS.
 ...
PMID:Complex regional pain syndromes: new pathophysiological concepts and therapies. 2018 Aug 38


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