Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject to age-dependent penetrance and imprinting. The paraganglioma gene (PGL1) has been mapped to 11q22.3-q23, and recently germline mutations in the SDHD gene have been identified. The SDHD region contains another gene, DPP2/TIMM8B, the homolog of which causes dystonia and deafness seen in Mohr-Tranebjaerg syndrome. Using four PGL pedigrees, two of which exhibit coinheritance of PGL and sensorineural hearing loss or tinnitus, analysis of 14 microsatellite markers provided support for linkage to the PGL1 locus. Sequence analysis identified novel mutations in exon 1 and exon 3 of the SDHD gene, including a novel two base pair deletion in exon 3 creating a premature stop codon at position 67; a novel three base pair deletion in exon 3 resulting in the loss of Tyr-93; a missense mutation in exon 3 resulting in the substitution of Leu-81 for Pro-81; and a novel G-to-C substitution in exon 1 resulting in the substitution of Met-1 for Ile-1. No base changes were detected in the DPP2/TIMM8B gene. There was no apparent loss of heterozygosity at the site of the SDHD mutations. However, RT-PCR analysis of tumor samples showed monoallelic expression of the mutant (paternal) allele as expected for imprinting. This has not previously been shown for this disorder. The inheritance and expression of the SDHD gene is consistent with the PGL1 gene being subject to genomic imprinting.
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PMID:Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 1139 96

Neurological histories of great musicians allow for a unique perspective on music physiology. Bedrich Smetana's autobiographical string quartet ends with the musical equivalent of tinnitus in the fourth movement, rendering the youthful and passionate themes of earlier movements moot as the piece ends depicting his ultimately fatal disease, neurosyphilis. Dmitri Shostakovich survived the censorship of Joseph Stalin's apparatchiks but suffered a prolonged form of paralysis attributable to slowly progressive motor neuron disease, although the viola sonata he wrote on his deathbed has become standard repertoire. Glenn Gould was a hypochondriacal pianist with obsessive-compulsive disorder and suspected Asperger syndrome. Vissarion Shebalin and (Ira) Randall Thompson had strokes followed by aphasia without amusia. Domenico Scarlatti provides an example of how even great composers must alter their technical expectations depending upon the skills and body habitus of their chief patrons. The focal dystonia afflicting Leon Fleisher and Gary Graffman catalyzed the discipline of performing arts medicine.
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PMID:Neurological problems of famous musicians: the classical genre. 1933 73

Several disorders that involve motor and sensory disturbances such as chronic pain, tinnitus, stroke or dystonia are also characterized by changes in the sensory and motor maps in the sensorimotor cortices. This article reviews training procedures that target these maladaptive changes and the behavioral and cortical changes that accompany them. In addition, we will discuss factors that influence these training procedures and discuss new developments. These procedures include training of perceptual abilities, motor function, direct cortical stimulation as well as behavioral approaches and have been shown to reorganize the altered sensory and motor maps. Treatments that combine several modalities such as imagery or mirror treatment as well as use of prostheses also have beneficial effects. Further research must elucidate the mechanisms of these plastic changes and relate them to disorders and treatments.
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PMID:Sensorimotor training and cortical reorganization. 1971 16

Magnetic stimulation has called the attention of neuroscientists and the public due to the possibility to stimulate and "control" the nervous system in a non-invasive way. It has helped to make more accurate diagnosis, and apply more effective treatments and rehabilitation protocols in several diseases that affect the nervous system. Likewise, this novel tool has increased our knowledge about complex neural behavior, its connections as well as its plastic modulation. Magnetic stimulation applied in simple or paired-pulse protocols is a useful alternative in the diagnosis of diseases such as multiple sclerosis, Parkinson disease, epilepsy, dystonia, amyotrophic lateral sclerosis, cerebrovascular disease, and sleep disorders. From the therapeutic perspective, magnetic stimulation applied repetitively has been found useful, with different degrees of efficacy, in treating resistant depression, tinnitus, psychogenic dysphonia, Alzheimer disease, autism, Parkinson disease, dystonia, stroke, epilepsy, generalized anxiety as well as post traumatic stress disorder, auditory hallucinations, chronic pain, aphasias, obsessive-compulsive disorders, L-dopa induced dyskynesia, mania and Rasmussen syndrome, among others. The potential of magnetic stimulation in neurorehabilitation is outstanding, with excellent range of safety and, in practical terms, without side effects.
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PMID:[Present and future of the transcranial magnetic stimulation]. 2378 15

In the last quarter of a century, DBS has become an established neurosurgical treatment for Parkinson's disease (PD), dystonia, and tremors. Improved understanding of brain circuitries and their involvement in various neurological and psychiatric illnesses, coupled with the safety of DBS and its exquisite role as a tool for ethical study of the human brain, have unlocked new opportunities for this technology, both for future therapies and in research. Serendipitous discoveries and advances in structural and functional imaging are providing abundant "new" brain targets for an ever-increasing number of pathologies, leading to investigations of DBS in diverse neurological, psychiatric, behavioral, and cognitive conditions. Trials and "proof of concept" studies of DBS are underway in pain, epilepsy, tinnitus, OCD, depression, and Gilles de la Tourette syndrome, as well as in eating disorders, addiction, cognitive decline, consciousness, and autonomic states. In parallel, ongoing technological development will provide pulse generators with longer battery longevity, segmental electrode designs allowing a current steering, and the possibility to deliver "on-demand" stimulation based on closed-loop concepts. The future of brain stimulation is certainly promising, especially for movement disorders-that will remain the main indication for DBS for the foreseeable future-and probably for some psychiatric disorders. However, brain stimulation as a technique may be at risk of gliding down a slippery slope: Some reports indicate a disturbing trend with suggestions that future DBS may be proposed for enhancement of memory in healthy people, or as a tool for "treatment" of "antisocial behavior" and for improving "morality."
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PMID:Future of brain stimulation: new targets, new indications, new technology. 2412 27

The use of electrical stimulation to treat pain in human disease dates back to ancient Rome or Greece. Modern deep brain stimulation (DBS) was initially applied for pain treatment in the 1960s, and was later used to treat movement disorders in the 1990s. After recognition of DBS as a therapy for central nervous system (CNS) circuit disorders, DBS use showed drastic increase in terms of adaptability to disease and the patient's population. More than 100,000 patients have received DBS therapy worldwide. The established indications for DBS are Parkinson's disease, tremor, and dystonia, whereas global indications of DBS expanded to other neuronal diseases or disorders such as neuropathic pain, epilepsy, and tinnitus. DBS is also experimentally used to manage cognitive disorders and psychiatric diseases such as major depression, obsessive-compulsive disorder (OCD), Tourette's syndrome, and eating disorders. The importance of ethics and conflicts surrounding the regulation and freedom of choice associated with the application of DBS therapy for new diseases or disorders is increasing. These debates are centered on the use of DBS to treat new diseases and disorders as well as its potential to enhance ability in normal healthy individuals. Here we present three issues that need to be addressed in the future: (1) elucidation of the mechanisms of DBS, (2) development of new DBS methods, and (3) miniaturization of the DBS system. With the use of DBS, functional neurosurgery entered into the new era that man can manage and control the brain circuit to treat intractable neuronal diseases and disorders.
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PMID:The present indication and future of deep brain stimulation. 2592 57

Repetitive transcranial magnetic stimulation (rTMS) is a treatment option with proved effectiveness especially in drug resist depression. It is used in functional brain mapping before neurosurgery operations and diagnostic of corticospinal tract transmission. Many studies are performed to evaluate rTMS using in treatment of obsessive - compulsive disorder, schizophrenia, autism, strokes, tinnitus, Alzheimer and Parkinson diseases, cranial traumas. Moreover rTMS was used in treatment of multiple sclerosis, migraine, dystonia. Electromagnetical field generated by rTMS penetrate skin of the scalp and infiltrate brain tissues to a depth of 2 cm, cause neurons depolarization and generating motor, cognitive and affective effects. Depending on the stimulation frequency rTMS can stimuli or inhibit brain cortex. rTMS mechanism of action remains elusive. Probably it is connected with enhancement of neurotransmitters, modulation of signals transductions pathways in Central Nervous System, gene transcription and release of neuroprotective substances. Studies with use of animals revealed that rTMS stimulation can generate brain changes similar to those seen after electric shock therapy without provoking seizures. The aim of presenting study was to analyze actual researches evaluating rTMS use in treatment of psychiatric and neurological diseases.
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PMID:[Evaluation of repetitive transcranial magnetic stimulation effectiveness in treatment of psychiatric and neurologic diseases]. 2740 8

Transcranial direct current stimulation (tDCS) is a technique of noninvasive cortical stimulation allowing significant modification of brain functions. Clinical application of this technique was reported for the first time in March 2005. This paper presents a detailed list of the 340 articles (excluding single case reports) which have assessed the clinical effect of tDCS in patients, at least when delivered to cortical targets. The reviewed conditions were: pain syndromes, Parkinson's disease, dystonia, cerebral palsy, post-stroke limb motor impairment, post-stroke neglect, post-stroke dysphagia, post-stroke aphasia, primary progressive aphasia, multiple sclerosis, epilepsy, consciousness disorders, Alzheimer's disease and other types of dementia, tinnitus, depression, auditory hallucinations and negative symptoms of schizophrenia, addiction and craving, autism, and attention disorders. The following data were collected: (i) clinical condition; (ii) study design; (iii) sample size; (iv) anode and cathode locations; (v) stimulation intensity and electrode area; (vi) number and duration of sessions; (vii) clinical outcome measures and results. This article does not include any meta-analysis and aims simply at providing a comprehensive overview of the raw data reported in this field to date, as an aid to researchers.
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PMID:A comprehensive database of published tDCS clinical trials (2005-2016). 2786 7