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)

The CSF proteins have previously been very little investigated in the cerebellar syndrome of chronic alcoholism and in essential tremor. Such studies have been carried out more thoroughly by electrophoretic methods in Parkinson's disease but generally with normal results. In the present investigation the CSF proteins were examined by isoelectric focusing and quantitative paper electrophoresis in 10 patients with the cerebellar syndrome of chronic alcoholsm, 12 patients with Parkinson's disease and 16 subjects with essential tremor. Abnormal CSF proteins of very similar appearance were found on isoelectric focusing in the acidic pH interval 5.6-5.8 in 80% of the patients with the cerebellar syndrome of chronic alcoholism. In Parkinson's disease the most common aberration was evidence of nonspecific blood-CSF-barrier damage which occurred in half of the patients. In only 17% of these cases did other alterations appear, situated in the pH range alkaline to pH 5.8. Abnormal CSF proteins were found in 94% of the patients with essential tremor. The aberrant proteins appeared in both the acidic and alkaline pH regions, most frequently with anisoelectric point at pH 5.9, 7.2 and 9.3. There was a considerably higher frequency of CSF protein abnormalities in different pH ranges in patients with tremor of more pronounced degree as compared to those with only mild symptoms. The electrophoretic examinations failed to show any conclusive alterations. Barrier-damage patterns of mild or moderate degree or slightly increased levels of CSF beta1-globulin were occasionally found in all 3 diseases. The results indicate that isoelectric focusing of the CSF proteins may be of diagnostic value in the cerebellar syndrome of chronic alcoholism and in essential tremor but does not reveal any characteristic abnormalities in Parkinson's disease.
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PMID:Isoelectric focusing and electrophoresis of the CSF proteins in tremor of different origins. 6 43

AOPC is frequently associated with degeneration in other systems, the striato-nigral in particular. Three anatomical-clinical cases of AOPC complicated by striato-nigral degeneration of varying gravity are described. Case 1 had a complex history: rigidity with axial predominance, plus signs in neurovegetative system, ocular palsy, myoclonia and fasciculation and a massive atrophy of the olivo-ponto-cerebellar and striato-nigral systems. Case 2 presented as a static and kinetic cerebellar syndrome; the anatomical confirmation of the AOPC involvement showing a patchy nigro-striatal degeneration but without clinical signs. Case 3 evolved as a Parkinson-type syndrome differentiated from true Parkinson's disease by signs affecting the pyramidal system and the relative importance of static signs, the lesions then involving namely the striato-nigral system. 69 allied cases in the literature are referred to and commented upon demonstrating the great clinical and anatomical variation in presentation of AOPC. The concept of "multiple system atrophy" allows most cases to be grouped under a general heading. The degenerative diseases of the CNS, in so far as their etiology remains obscure, make up a "waiting list".
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PMID:[Olivo-ponto-cerebellar and striato-nigral atrophy. 3 anatomo-clinical cases. Review of the literature]. 242 47

The parkinsonian syndrome rests on the clinical tripod: akinesia, rigidity, tremor. Akinesia is the key symptom, broadly defined as a difficulty in initiating and performing movements in proportion to their complexity (sophisticated, simultaneous movements) and their duration (repetitive movements). The most frequent cause of the syndrome is Parkinson's disease. Although this diagnosis needs to be confirmed in pathological terms by the loss of neurons and the presence of Lewy's bodies in the substantia nigra, some clinical data enable it to be envisaged with a minimum of errors; these are pure parkinsonian triad, good response to dopatherapy and asymmetrical symptoms. The other causes of parkinsonian syndrome are usually related to the administration of neuroleptic drugs and to degenerative diseases with lesions that are more diffuse than those of Parkinson's disease. In Steele-Richardson-Olzewski disease a parkinsonian syndrome is associated with supranuclear ophthalmoplegia. Multiple systematized atrophy presents under three different clinical aspects: a parkinsonian syndrome without tremor and resistant to L-dopa, suggesting atrophy of the strionigral tract; a parkinsonian syndrome associated with a cerebellar syndrome, suggesting olivo-cerebellar-pontine atrophy, and Shy-Drager disease which includes primary dysautonomy and other neurological syndromes.
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PMID:[Parkinson's disease and parkinsonian syndromes]. 272 71

Rapid syllable repetitions require alternating articulatory movements and, thus, provide a test for oral diadochokinesis. The present study performed an acoustic analysis of rapid syllable repetitions in patients suffering from idiopathic Parkinson's disease (n = 17), Huntington's chorea (n = 14), Friedreich's ataxia (n = 9), or from a purely cerebellar syndrome (n = 13). Four parameters were considered: the mean number of syllables per train, the median syllable duration with its variation coefficient, and articulatory imprecision in terms of the percentage of incomplete closures. Apart from a few subjects with minor motor deficits only, in all patients at least one of the four measures of diadochokinesis exceeded the normal range. Accordingly, discriminant analysis revealed a highly significant difference between controls and patients with respect to the considered parameters. Thus, oral diadochokinesis tasks represent a sensitive measure of orofacial motor impairment. Moreover, multivariate analysis showed that Parkinson's disease and Friedreich's ataxia are characterized by a highly specific profile of diadochokinesis performance.
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PMID:Oral diadochokinesis in neurological dysarthrias. 772 77

The clinical features and natural history of 100 patients diagnosed as probable multiple system atrophy (MSA) are described. In all 14 (of 41 deceased) cases who underwent post-mortem examination of the brain, the diagnosis was confirmed pathologically, providing some validation of the clinical diagnostic criteria used. There were 67 men and 33 women. Median age at onset (at time of first reported symptom) was 53 (range 33-76) years. Autonomic symptoms were the initial feature in 41% of the patients, but had subsequently developed in 97% at latest follow-up. The most frequent autonomic symptom in men was impotence, and in women was urinary incontinence. Symptomatic orthostatic hypotension, although present in 68%, was severe in only 15% of patients. Parkinsonism was the initial feature in 46%, but had subsequently developed in 91% of subjects at latest follow-up. It was the predominant motor disorder [striatonigral degeneration (SND) type] in 82% of the patients, and was usually asymmetric (74%). Although akinesia and rigidity predominated, tremor was present at rest in 29% of patients, but in only 9% had a classical pill-rolling parkinsonian rest tremor been recorded. Twenty-nine percent of MSA patients had a good or excellent levodopa response at some stage. However, only 13% maintained this response. Prominent orofacial dyskinesias and dystonias occurred in a quarter of treated patients with MSA. Early onset (before age 49 years) MSA patients tended to have a good levodopa response. Cerebellar symptoms or signs were the only initial feature in 5%. Although subsequently developing in a further 47% of cases, in only 18% was a cerebellar syndrome the only (9%) or predominant (9%) motor disorder [olivopontocerebellar (OPCA) type]. Pyramidal involvement at latest follow-up was noted in 61% of all cases. In a further seven patients the initial features involved more than one system, and one other had presented as a parasomnia. Multiple system atrophy of the OPCA type most commonly presented with gait ataxia. Tremor, pyramidal signs and myoclonus were less common than in MSA of the SND type. Cerebellar signs were present in 42% of patients with MSA of the SND type and parkinsonian signs in 50% of patients with MSA of the OPCA type. Disease progression was faster than in idiopathic Parkinson's disease, so that > 40% of patients were markedly disabled or wheelchair bound within 5 years of onset of motor disturbance. Median survival of the whole group as calculated by Kaplan-Meier analysis was 9.5 years.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical features and natural history of multiple system atrophy. An analysis of 100 cases. 792 69

"Parkinson plus" is a group of sporadic degenerative disorders associating Parkinsonism, poorly sensitive to L-dopa, to other neurological syndromes. Thus, progressive supranuclear palsy includes Parkinson's disease, vertical gaze paralysis, nuchal dystonia and dementia; multisystem atrophies associate to different degrees Parkinson's disease (striatonigral degeneration), a cerebellar syndrome (olivopontocerebellar atrophy), dysautonomia (Shy-Drager syndrome), pyramidal syndrome, etc. Other diseases (corticobasal degeneration, diffuse Lewy body disease) also belong to the Parkinson "plus" group. Clinical differentiation between Parkinson "plus" and idiopathic Parkinson's disease is difficult. Their prognosis and treatment are substantially different. Certain diagnosis is based solely upon anatomical observations.
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PMID:[Parkinson "plus"]. 920 70

This article will review those electrophysiological investigations which have addressed the neuronal mechanisms underlying impaired gait. The aims of the review are to provide further insights to the underlying pathophysiology of impaired gait and also towards the selection of an appropriate treatment. From the patients' point of view the first indication of a central motor system lesion is an impairment of movement, most notably locomotion. These symptoms are characteristic in cases of spasticity, cerebellar lesion or Parkinson's disease. Clinical examination reveals typical changes in tendon tap reflexes and muscle tone which were believed to account for the movement disorder presented. However, we now know that there is only a weak relationship between the physical symptoms observed during clinical examination under passive motor conditions and the altered neuronal mechanisms underlying the impairment during active motion. By recording and analysing electrophysiological and biomechanical parameters during functional movements such as locomotion, the significance of impaired reflex behaviour or the pathophysiology of muscle tone and its contribution to the movement disorder can be reliably assessed. Consequently, the treatment should not be cosmetic, i.e. the correction of an isolated clinical parameter, but should be based on the pathophysiology and significance of those mechanisms underlying the impairment of the patients' movements. Data from electrophysiological and biomechanical investigations of locomotion of patients with spasticity, cerebellar disorder or Parkinson's disease are discussed in this review. The neuronal mechanisms, which are essentially central programs and afferent input, involved in disorders of gait are evaluated on the basis of their function in healthy subjects. The impact of this analysis in deciding an appropriate treatment are discussed with respect to the pathophysiology underlying the gait disorder (spasticity, cerebellar disorder or Parkinson's disease). At the present time we have only a basic understanding of the essential receptor systems, such as leg extensor load receptors, and their interaction with other systems involved in postural control. In the future, the knowledge gained from gait analysis may help in the selection of the appropriate pharmacological and physical treatment required even though the patient may only be at an early stage of motor impairment.
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PMID:Neurophysiology of gait disorders: present and future applications. 930 81

Local field potentials (LFPs) were recorded in seven unanaesthetized patients between the four adjacent contacts of a macroelectrode stereotactically implanted for the treatment of tremor. The LFPs were presumed to arise predominantly from the nucleus ventralis intermedius (Vim) of the thalamus, the implantation target. They were recorded simultaneously with the ipsilateral EEG and contralateral EMG during an isometric contraction or at rest. The patients had a history of either isolated tremor (essential tremor, n = 2; benign tremulous Parkinson's disease, n = 1) or tremor with signs of a cerebellar syndrome (multiple sclerosis, n = 3; essential tremor and ataxia, n = 1), although clinical tremor was absent at the time of recording because of a temporary microthalamotomy effect in four patients. In patients with isolated tremor, oscillatory activity picked up by contacts in Vim (cerebellar thalamus) was invariably coherent with that in the sensorimotor cortex or contracting muscle in the 8-27 Hz range. Such coherence was absent in two of the four subjects with tremor associated with a cerebellar syndrome. Coherence between LFPs recorded from more caudally placed contacts and the sensorimotor cortex or contracting muscle was negligible in all patients. These caudally placed contacts demonstrated the highest sensory evoked potential in response to median nerve stimulation. Oscillatory activity in the cerebellar thalamus (Vim) lagged behind that in both cortex and muscle. Coherent activity between the cerebellar thalamus (Vim) and the cortex persisted at rest. It is suggested that rhythmicities in the 8-27 Hz range could provide the basis for a temporal framework that is widely distributed within the motor system.
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PMID:Coherence between cerebellar thalamus, cortex and muscle in man: cerebellar thalamus interactions. 1086 57

Stimulation of the ventralis intermedius (Vim) is a treatment of severe tremor from various origins. The adjustment of electrical parameters is done when the lesion-like effects of the implant disappear. Each contact is assessed successively, by using a constant pulse width of 60 microsec and a frequency of 130 Hz or above and progressively increasing the voltage. At the same time, the tremor and possible side effects are monitored. The most frequent side effects are paresthesias, dysarthria, muscle contractions related to stimulation of the pyramidal tract, and cerebellar syndrome. Medications have to be adjusted slowly, and often, particularly in case of Parkinson's disease, it is difficult to decrease the dosage. It is important to teach the patient to switch the stimulator on or off and check that it is working. Patients need to be seen within the 3 months after implant, then occasionally according to the effect. In the long-term, some patients will develop some rebound of tremor when they switch off and/or some tolerance to the effect of the stimulator, which can be difficult to manage. In case of Parkinson's disease, motor fluctuations and dyskinesias, that does not respond to Vim stimulation, can occur.
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PMID:Postoperative management of Vim DBS for tremor. 1194 78

Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. This research review summarizes the existing literature on parkinsonism-predominant presentation SCA2 and presents new clinical cases of patients with this condition. Various phenotypes are noted in this subtype of SCA2, including parkinsonism indistinguishable from idiopathic Parkinson's disease (PD), parkinsonism plus ataxia, motor neuron disease, and postural tremor. In several kindreds with multiple affected family members, the SCA2 expansion segregated with disease; in addition, several single cases of parkinsonism with and without a family history are also described. The number of repeats in symptomatic patients ranged from 33 to 43. Interruption of the CAG repeat with CAA, CGG, or CCG was found in some individuals, possibly stabilizing the repeat structure and accounting for the relative stability of the repeat size across generations in some families; allele length is not necessarily indicative of trinucleotide repeat architecture. Positron emission tomography scanning in one family showed reduced fluorodopa uptake and normal to increased raclopride binding with a rostrocaudal gradient similar to that found in idiopathic PD. This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism.
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PMID:Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). 1519 99


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