Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review addresses the issue whether instrumental evaluations of balance may be helpful in orienting the clinical decision regarding balance rehabilitation. The aptitude of instrumental assessment of balance in supporting decision making in patients with balance disorders connected with ageing and with neurological diseases is considered. Among instrumental evaluations, recording of body sway during quiet stance and dynamic conditions are described, together with manoeuvres for recording postural reactions to predictable or unpredictable postural perturbations. The posturography patterns encountered in elderly subjects and patients affected by Parkinson's disease, spasticity, peripheral neuropathy, cerebellar diseases, vestibular deficit and neck disorders are presented and discussed. Findings from instrumental assessments of balance are helpful in understanding the pathophysiology of balance disorders, in screening for balance disorders, and in evaluating the natural progression of the disease or the response to therapy, be it physical or pharmacological. Conversely, as far as the prediction of the risk of falling in one individual patient is concerned, the various posturography tests do not produce consistent results.
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PMID:The role of instrumental assessment of balance in clinical decision making. 2048 25

The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson's disease (PD), additional PD loci are likely to exist. We recently identified a multigenerational family of Danish and German descent in which five males in three generations presented with a unique syndrome characterized by parkinsonian features and variably penetrant spasticity for which X-linked disease transmission was strongly suggested (XPDS). Autopsy in one individual failed to reveal synucleinopathy; however, there was a significant four-repeat tauopathy in the striatum. Our objective was to identify the locus responsible for this unique parkinsonian disorder. Members of the XPDS family were genotyped for markers spanning the X chromosome. Two-point and multipoint linkage analyses were performed and the candidate region refined by analyzing additional markers. A multipoint LOD(max) score of 2.068 was obtained between markers DXS991 and DXS993. Haplotype examination revealed an approximately 20 cM region bounded by markers DXS8042 and DXS1216 that segregated with disease in all affected males and obligate carrier females and was not carried by unaffected at-risk males. To reduce the possibility of a false-positive linkage result, multiple loci and genes associated with other parkinsonian or spasticity syndromes were excluded. In conclusion, we have identified a unique X-linked parkinsonian syndrome with variable spasticity and four-repeat tau pathology, and defined a novel candidate gene locus spanning approximately 28 Mb from Xp11.2-Xq13.3.
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PMID:A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity. 2062 32

Corticobasal degeneration (CBD) is an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann). Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG) and electromyography (EMG) provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease.
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PMID:An unusual cause of dementia: essential diagnostic elements of corticobasal degeneration-a case report and review of the literature. 2178

Owing to the frequent observation of poverty of movements, facial hypomimia and balance impairment, amyotrophic lateral sclerosis (ALS) variant with predominance of upper motor neuron involvement (UMN-ALS) is prone to be diagnosed with Parkinsonism. A clinical assessment, including the velocity-dependent stretch response test to differentiate between pyramidal and extrapyramidal stiffness; the Unified Parkinson's Disease Rating Scale and the Berg Balance Scale to assess degree of bradykinesia and postural instability; and (123)I-FP-CIT scintigraphy evaluation to investigate the nigrostriatal circuit involvement, were carried out to characterize Parkinson-like features in UMN-ALS patients. Sixteen UMN-ALS patients were included in the study. The velocity-dependent stretch response indicated spasticity in all the muscles tested. The degree of stiffness was found to be related to bradykinesia and postural instability. Eleven patients (70%) showed a reduction in striatal (123)I-FP-CIT uptake found to be related to disease duration and patients' ages but not to scores of the functional scales. Slowness of movements and postural instability noted in our patients could be mostly attributed to spasticity. The lack of any correlation between UPDRS or BBS scores and the degree of nigrostriatal impairment on DaTSCAN seems to disprove nigrostriatal circuit involvement in these extrapyramidal-like features.
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PMID:Parkinson-like features in ALS with predominant upper motor neuron involvement. 2187 Sep 99

The botulinum toxins (BTX), type A and type B by blocking vesicle acetylcholine release at neuro-muscular and neuro-secretory junctions can result efficacious therapeutic agents for the treatment of numerous disorders in patients requiring neuro-rehabilitative intervention. Its use for the reduction of focal spasticity following stroke, brain injury, and cerebral palsy is provided. Although the reduction of spasticity is widely demonstrated with BTX type A injection, its impact on the improvement of dexterity and functional outcome remains controversial. The use of BTX for the rehabilitation of children with obstetrical brachial plexus palsy and in treating sialorrhea which can complicate the course of some severe neurological diseases such as amyotrophic lateral sclerosis and Parkinson's disease is also addressed. Adverse events and neutralizing antibodies formation after repeated BTX injections can occur. Since impaired neurological persons can have complex disabling feature, BTX treatment should be viewed as adjunct measure to other rehabilitative strategies that are based on the individual's residual ability and competence and targeted to achieve the best functional recovery. BTX therapy has high cost and transient effect, but its benefits outweigh these disadvantages. Future studies must clarify if this agent alone or adjunctive to other rehabilitative procedures works best on functional outcome.
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PMID:Therapeutic use of botulinum toxin in neurorehabilitation. 2194 44

Although a cardinal symptom of Parkinsonian disease, up to now, rigidity has been investigated much less than spasticity in hemiplegic patients. Many pathophysiological mechanisms may at least theoretically contribute to Parkinsonian rigidity, from altered viscoelastic muscle properties to inability of parkinsonian patients to relax. However, as demonstrated many years ago, motoneuron responses to muscle afferent volleys are involved in rigidity since afferent volleys are suppressed after dorsal root section. To our knowledge, homosynaptic depression (i.e. the fact that motoneuron responses to Ia afferent volleys exhibit a frequency-related depression) has not been studied in parkinsonian disease, despite the fact that in spastic patients, changes in homosynaptic depression are significantly correlated at wrist and ankle levels with the severity of spasticity. Thus, in the present series of experiments, we investigated in parkinsonian patients with chronic implantation of both subthalamic motor nuclei, the amount of homosynaptic depression at wrist and ankle levels on and off deep brain stimulation. Off deep brain stimulation, the frequency-related depression disappeared, the patients became rigid and the amount of homosynaptic depression was significantly correlated with the severity of rigidity. On deep brain stimulation, the frequency-related depression was restored and the rigidity suppressed, suggesting that homosynaptic depression is one of the mechanisms underlying rigidity in Parkinson's disease. Moreover, the unexpected finding that changes in the rigidity score and the amount of homosynaptic depression are time-locked to the onset of deep brain stimulation leads us to reconsider the mechanisms underlying changes in homosynaptic depression.
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PMID:Subthalamic nucleus stimulation reverses spinal motoneuron activity in parkinsonian patients. 2207 70

Due to successful use of intrathecal drug delivery in the management of refractory pain and spasticity, new agents and indications are now being investigated. Preclinical studies of neurotrophic factors, molecules necessary for neuroneal survival and development, suggest that these agents may be beneficial for patients with neurologic disorders. Because neurotrophic factors do not cross the blood-brain barrier following systemic administration, local delivery routes, including intrathecal, intracerebroventrical, and intraparenchymal routes, are being studied; research is being conducted on intrathecal delivery for amyotrophic lateral sclerosis (ALS), intracerebroventricular delivery for Parkinson's disease and Alzheimer's disease, and intrahippocampal delivery for seizure disorders. Treatment of other neurologic disorders, such as brain tumors and HIV-related viral infections, also may be optimized by methods of local drug delivery, including intratumoral and intraparenchymal administration of potentially effective agents. Intraspinal, intratumoral, and intraparenchymal routes of administration are speculated to become critical components of treatment for a variety of neurological indications.
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PMID:Future trends in the development of local drug delivery systems: intraspinal, intracerebral, and intraparenchymal therapies. 2215 Nov 16

Dystonia is a symptom defined by involuntary and irregular contractions of the muscles, which cause movement disorders and postural problems. Deep brain stimulation (DBS) in globus pallidus interna (GPi) is a good option for controlling dystonia. DBS has already been shown to have significant effects on primary dystonia as well as Parkinson's disease. Dystonia is very difficult to manage, as seen in cerebral palsy (CP) mixed with spasticity. As CP patients grow, their musculoskeletal problems may require orthopedic surgery. However, the outcome of orthopedic surgery is not usually suitable due to dystonia. Therefore, we attempted to control dystonia through DBS initially and perform orthopedic surgery to correct musculoskeletal deformities after treatment of dystonia. Herein, we report a case that showed remarkable improvement in terms of the dystonia rating scale and gait pattern after combined therapy of DBS and orthopedic surgery.
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PMID:Combined therapy of orthopedic surgery after deep brain stimulation in cerebral palsy mixed type - a case report -. 2250 1

Movement disorders are a diverse group of hypokinetic and hyperkinetic neurologic diseases characterized by abnormal function of the basal ganglia. In this chapter, we will discuss the four most common diagnoses encountered in subspecialty movement disorders clinics: Parkinson disease, essential tremor, dystonia, and spasticity. The presentation and natural history of each of these disorders varies widely in terms of age of onset, anatomic distribution, and severity. We will review the demographics, clinical characteristics, diagnostic criteria, natural history, and management of these diseases. The medical and surgical management of Parkinson disease will be covered in the chapters "Update on the Medical Management of Parkinson Disease" and "Deep Brain Stimulation in Movement Disorders," respectively.
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PMID:Overview of common movement disorders. 2281 Jan 79

In neuro-rehabilitation, botulinum toxin (BTX) as adjunct to other interventions can result in a useful therapeutic tool treating disabled people. Other than spasticity, numerous motor and non motor disorders can complicate clinical course and hamper rehabilitative process of neurological impaired patients. A review of BTX use in treating muscular imbalance of children with obstetrical brachial plexus palsy and in reducing sialorrhea following neurological diseases including amyotrophic lateral sclerosis (ASL), Parkinson disease and cerebral palsy (CP) is provided. Clinicians have to face unique and difficult to treat clinical conditions such as ulcers, sores and abnormal posture and movement disorders due to neurological affections. BTX effectiveness in treating some of these conditions is also provided. Since, neurologically disabled subjects can show complex dysfunction, prior to initiating BTX therapy, specific functional limitations, goals and expected outcomes of treatment should be evaluated and discussed with family and caregivers.
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PMID:Botulinum toxin use in neuro-rehabilitation to treat obstetrical plexus palsy and sialorrhea following neurological diseases: a review. 2295 5


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