Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Paired unipolar electrodes were introduced into the pulvinar and ventrolateral thalamic nuclei in 3 patients. Stimulation was applied in 1 patient in an attempt to alter the vegetative state after a closed head injury, and increased alertness and ability to comply resulted with stimulation. Auditory evoked responses improved from almost flat to a recognizable pattern. In the 2nd patient, bilateral disabling intention tremor was relieved for several days after a few hours of stimulation. In the 3rd, brachial plexus avulsion pain was improved by stimulation from the contralateral pulvinar to the ventroposterior lateral thalamic nucleus.
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PMID:Electrical stimulation across the midline and between basal ganglion nuclei. 265 46

Abnormal movements or dyskinesias are associated with hyperpathia and hyperalgesia in a number of conditions such as post amputation jumping stumps pseudothalamic syndromes following cerebro vascular accidents and in some cases of demyelinating diseases. Intermittent electrical stimulation of the specific sensory nucleus of the thalamus (I.T.S.) controls at the same time pain and dyskinesias with the same long lasting effect. In some cases where dyskinesias are associated with sensory deafferentation, but not with chronic pain or hyperpathia, the same positive effect of thalamic stimulation on the control of abnormal movements is achieved while in other cases of tremor or dyskinesias without sensory deafferentation such as parkinsonism, intention tremor etc.. the efficacy of I.T.S. is nil. Hence, discriminative sensory deaffrentation is the common link between the cases of tremor or dyskinesias that use to respond to I.T.S. which is up to now the only therapy of proven efficacy in such conditions.
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PMID:[Treatment of various dyskinesias by intermittent thalamic stimulation]. 698 26

Tremor that occurs as a result of a cerebellar lesion, cerebellar tremor, is characteristically an intention tremor. Thalamic activity may be related to cerebellar tremor because transmission of some cerebellar efferent signals occurs via the thalamus and cortex to the periphery. We have now studied thalamic neuronal activity in a cerebellar relay nucleus (ventral intermediate-Vim) and a pallidal relay nucleus (ventralis oral posterior-Vop) during thalamotomy in patients with intention tremor and other clinical signs of cerebellar disease (tremor patients). The activity of single neurons and the simultaneous electromyographic (EMG) activity of the contralateral upper extremity in tremor patients performing a pointing task were analyzed by spectral cross-correlation analysis. EMG spectra during intention tremor often showed peaks of activity in the tremor-frequency range (1.9-5.8 Hz). There were significant differences in thalamic neuronal activity between tremor patients and controls. Neurons in Vim and Vop had significantly lower firing rates in tremor patients than in patients undergoing thalamic surgery for pain (pain controls). Other studies have shown that inputs to Vim from the cerebellum are transmitted through excitatory connections. Therefore the present results suggest that tremor in these tremor patients is associated with deafferentation of the thalamus from cerebellar efferent pathways. The thalamic X EMG cross-correlation functions were studied for cells located in Vim and Vop. Neuronal and EMG activity were as likely to be significantly correlated for cells in Vim as for those in Vop. Cells in Vim were more likely to have a phase lag relative to EMG than were cells in Vop. In monkeys, cells in the cerebellar relay nucleus of the thalamus, corresponding to Vim, are reported to lead movement during active oscillations at the wrist. In view of these monkey studies, the present results suggest that cells in Vim are deafferented and have a phase lag relative to tremor that is not found in normal active oscillations. The difference in phase of thalamic spike X EMG activity between Vim and Vop may contribute to tremor because lesions of pallidum or Vop are reported to relieve cerebellar tremor.
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PMID:Single-neuron analysis of human thalamus in patients with intention tremor and other clinical signs of cerebellar disease. 1192 26

Familial hemiplegic migraine (FHM) type 1 is a rare monogenic dominant autosomal disease due to CACNA1A gene mutations. Besides the classical phenotype, mutations on CACNA1A gene are associated with a broader spectrum of clinical features including cerebellar ataxia, making FHM1 a complex channelopathy. We report the case of a patient carrying the p.Arg583Gln mutation affected by hemiplegic migraine and late onset ataxia and we performed a literature review about the clinical features of p.Arg583Gln. Although p.Arg583Gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. The heterogeneous spectrum of CACNA1A gene mutations probably causes sporadic hemiplegic migraine (SHM) to be misdiagnosed. Given the therapeutic opportunities, SHM/FHM1 should be considered in differential diagnosis of patients with cerebellar ataxia and migraine with aura.
J Headache Pain 2012 Jul
PMID:R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update. 2252 33

Many physicians are unaware of the many phenotypes associated with the fragile X premutation, an expansion in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene that consists of 55-200 CGG repeats. The most severe of these phenotypes is fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in the majority of ageing male premutation carriers but in fewer than 20% of ageing women with the premutation. The prevalence of the premutation is 1 in 150-300 females, and 1 in 400-850 males, so physicians are likely to see people affected by FXTAS. Fragile X DNA testing is broadly available in the Western world. The clinical phenotype of FXTAS at presentation can vary and includes intention tremor, cerebellar ataxia, neuropathic pain, memory and/or executive function deficits, parkinsonian features, and psychological disorders, such as depression, anxiety and/or apathy. FXTAS causes brain atrophy and white matter disease, usually in the middle cerebellar peduncles, the periventricular area, and the splenium and/or genu of the corpus callosum. Here, we review the complexities involved in the clinical management of FXTAS and consider how targeted treatment for these clinical features of FXTAS will result from advances in our understanding of the molecular mechanisms that underlie this neurodegenerative disorder. Such targeted approaches should also be more broadly applicable to earlier forms of clinical involvement among premutation carriers.
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PMID:Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. 2734 21