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)

Posteroventral pallidotomy (PVP) was carried out in 86 patients with Parkinson's disease, who presented marked bradykinesia, freezing of gait and postural defect associated with rigidity and tremor in 82 patients (bradykinesia type), and similar gait and postural problems with minimum signs of rigidity and tremor in 4 (pure akinesia type). The stereotactic coordinates of Leksell's device were calculated from MRI and conventional ventriculography. The final target was defined by microelectrode techniques in the basal ganglia. The microrecording study revealed a very high background activity in the internal pallidum in patients of the bradykinetic type, however, a much lower pallidal activity in patients of the pure akinesia type. Fifty-eight patients underwent unilateral PVP, and 28 underwent bilateral surgery. Following PVP, rigidity tremor and poor reciprocal movements were significantly improved especially in the contralateral extremities. The most dramatic findings were the reversal of akinetic symptoms and wearing-off phenomena. The patients were followed up for 3-30 months (mean = 8) after surgery. Of the 82 bradykinesia type patients, good result were obtained in 48 (58%), fair results in 26 (32%), and minor improvement or no change in 8 (10%). In all the 4 patients of the pure akinesia type, recurrence of the akinetic symptoms occurred after a temporal improvement lasting a few days to 3 month after surgery. There was worst dysarthria in 3 patients, hemiparesis in 1 and partial motor aphasia in 1. The visual field problem was not complicated in any patients. These findings suggest that akinetic symptoms in PD are implicated in overactive pallidal outputs with putative GABAergic modulator by excessively inhibiting pedunculopontine nucleus activity (midbrain locomotor and posture regions) as well as thalamic activity. Partial interruption of the pallidal efferents eliminates the akinetic symptoms by disinhibitory effects on the target structures. The pathology of PD of the pure akinesia type is supposedly in the brainstem and should be excluded from indication of pallidotomy.
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PMID:Surgical control of akinesia in Parkinson's disease. 879 Oct 23

A 34-year-old man presented with a 30-year history of spasmodic dysphonia. He developed a speech disturbance 1 month after a closed head injury due to a fall. Sighing, coughing, and crying were normal. He had a tremor of the right hand when he drew a vertical line. His out-stretched right hand had a minimal dystonic posture with occasional jerks of the fingers. T1-weighted axial brain MRI study showed a low signal intensity lesion at the putamen; coronal and axial T2-weighted MRI brain scans showed a high and low signal intensity lesion confined to the middle part of the ventrolateral putamen. Damage to the ventrolateral putamen may have caused abnormal voluntary control of the laryngeal muscles.
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PMID:Spasmodic dysphonia associated with a left ventrolateral putaminal lesion. 879 90

We reported a sporadic case of DRPLA that had an elderly age of onset. The patient was a 71-year-old woman. Her parents, sisters and a brother didn't have neurologic diseases. She had been well until the age of 68 years, when she noticed her unstable gait. On neurologic examination cerebellar ataxia and a tremor at the neck were noticed, but we were unable to differentiate her disease from the other types of spinocerebellar degeneration. An MRI of the cranium showed atrophy of the cerebellum, pons, brain stem and cerebrum, and a diffuse lesion of the cerebral white matter. These findings made us suspect her disease of DRPLA. When we analyzed the CAG repeat in the DRPLA gene, we found it expanded to 57. We thought that the elderly onset related to a relatively mild expansion.
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PMID:[A sporadic case of dentatorubral-pallidoluysian atrophy (DRPLA) having an elderly age of onset]. 881 Aug 54

We report a 63-year-old woman who presented myotonia and parkinsonism. The patient was well until 15 years of the age when she noted that the ring finger of her left hand at times flexed when she did not intend to do so. She noted weakness in her left upper extremity at the age of 40, and difficulty in relaxing her hand grip at 45. She had an onset of tremor in her right foot at age 50, which was followed by difficulty in gait and hand writing. She was admitted to Juntendo University Urayasu Hospital when she was 63-year-old. Her mother, two sisters, and a son were affected with similar muscle weakness and myotonia. Although some of them developed stooped posture in the late stage of the disease, none of them had overt parkinsonism. General physical examination was unremarkable. Neurologic examination revealed an alert and oriented woman with some recent memory loss. She had bilateral ptosis, facial weakness, and a masked face. Myerson's sign was present. Her speech was small and monotonous. The sternocleidomastoid muscles were markedly atrophic and weak. The remaining of the cranial nerves were intact. She walked in small steps with freezing with support. She showed bradykinesia, retropulsion, and resting tremor in her right leg. Slight distal dominant weakness was noted in both upper and lower extremities more on the left. No cerebellar signs were noted. Muscle stretch reflexes were within normal limits in the upper extremities and diminished in the lower limbs. Sensation was intact. Routine laboratory findings were unremarkable. Cranial CT scan and MRI revealed slight cortical atrophy and leukoaraiosis. She responded to levodopa and she became able to walk by herself. She was transferred to another hospital one month after her admission. She had several bouts of airway obstruction with one episode of respiratory arrest. She expired six month after the transfer. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that this patient suffered from myotonic dystrophy and Parkinson's disease which set in later years. Postmortem examination on the iliopsoas muscle revealed uneven muscle fiber diameters, central nuclei, and type 1 fiber predominance; the pathologic finding was consistent with myotonic dystrophy. The substantia nigra showed marked cell loss and Lewy bodies in the remaining neurons. The finding was consistent with Parkinson's disease. In myelin stain, diffuse myelin pallor was noted in the cerebral white matter which was the pathologic substrate of leukoaraiosis in this patient. Combination of these two disorders have never been reported in the literature to our knowledge. It appears to be that the coincidence is just a by-chance phenomenon, but it seems interesting to note that accelerated aging process appears to be present in both myotonic dystrophy and Parkinson's disease.
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PMID:[A 63-year-old woman with muscle weakness, myotonia, and parkinsonism]. 886 42

Twenty-eight centers completed a survey about their current practice of pallidotomy. This sample represents a non-exhaustive survey of the current practice of pallidotomy in North America and is not a study of outcomes. 1015 patients underwent 1219 pallidotomies: 811 (80%) unilateral, 72 (7%) staged bilateral, and 132 (13%) simultaneous bilateral. Pallidotomy has long been an accepted procedure and the indications for this surgery, in the opinion of the responding centers, were rated on a scale of 1 (poor) to 4 (excellent) and demonstrated dyskinesia as the best indication (median = 4); on-off fluctuations, dystonia, rigidity, and bradykinesia as good indications (median = 3); and freezing, tremor and gait disturbance as fair indications (median = 2). Most centers used MRI alone (50%) or in combination with CT scan (n = 6) or ventriculopathy (n = 5) to localize the target. The median values of pallidal coordinates were: 2 mm anterior to the midcommissural point 21 mm lateral to the midsagittal plane and 5 mm below the intercommissural line. Microrecording was performed by half of the centers (n = 14) and half of the remaining centers were considering starting it (n = 7). Main criteria used to define the target included the firing pattern of spontaneous neuronal discharges (n = 13) and the response to joint movement (n = 10). Most centers performed motor (n = 26) and visual (n = 23) macrostimulation. Twenty four centers performed test lesions using median values of 55 degrees C temperatures for 30 s. Final lesions consisted of 3 permanent lesions placed 2 mm apart, each lesion created with median values of 75 degrees C temperatures for 1 minute. Median hospital stay was 2 days.
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PMID:Pallidotomy: a survey of current practice in North America. 888 Jul 89

We describe five patients presenting with high fever and isolated cerebellar gait ataxia. In all these patients, neurological examination revealed dysmetria, intention tremor and postural tremor during sustained posture, all restricted to the legs. Brain MRI was normal. In four of these patients, the recording of leg tremor during sustained postures showed a 3-Hz frequency. Cerebellar gait ataxia resolved within 3-10 days. We suggest that the ataxic gait was due to a reversible dysfunction of the spinocerebellar part of the anterior lobe.
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PMID:Reversible cerebellar gait ataxia with postural tremor during episodes of high pyrexia. 888 94

We report a 19-year-old man with mild form of phenylketonuria. The diagnosis was first made when he was examined for the tremor at 19 years of age. He had not received the Guthrie's screening test for phenylketonuria in infancy. His development of speech and walking was almost normal. Action and positional tremor developed at two years of age, and psychomotor deterioration at five years. His intelligence was of borderline, and he entered the special class for the mentally retarded at elementary school and junior high school. His skin and iris were less pigmented than those of Japanese young adults, and his hair was rather reddish. He had mild action tremor. He showed mild mental retardation, and the WAIS was 46 in PIQ, 70 in VIQ and 53 in total IQ. T2-weighted MRI of the brain showed high signal of the deep white matter around the posterior conus of the lateral ventricles. EEG showed paroxysmal abnormalities. Serum aminogram disclosed a marked elevation of phenylalanine. Analyses of pteridine in the serum and urine disclosed a low ratio of neopterine/biopterine. An assay of the dehydropteridine reductase in erythrocytes was normal. These laboratory data indicated that his condition was caused by a deficiency of phenylalanine hydroxylase deficiency.
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PMID:[A case report of mild from of phenylketonuria]. 890 94

Three basic principles underlie the techniques of stereotactic cryosurgery for Parkinson's disease: (1) high-resolution MRI of the surgical target using thin sequential coronal, axial and sagittal views: (2) clinical-physiological verification of localization of the surgical target by reversible inhibition test, and (3) production of the cryosurgical freezing lesion in a conscious, cooperative patient. The cryosurgical lesion is created in the ventrolateral nucleus of the thalamus for control of tremor and rigidity, or in the posterior ventral area of the pallidum for control of rigidity and bradykinesia. An initially reversible inhibition is produced by cooling the probe tip to -10 degrees C. This cools the brain tissue within 3 mm of the probe to 2-15 degrees C. If parkinsonian symptoms are suppressed, the cryoprobe tip temperature is then lowered incrementally, resulting in a gradually enlarging lesion surrounded by a reversible buffer zone. The final temperature is that in which parkinsonian symptoms are abolished and/or side effects appear. After performing and evaluating over 1,000 cryothalamotomies and cryopallidotomies on patients for whom medical treatments had failed, the author concludes that cryosurgical techniques are safer and produce lesions that are better controlled for size and location than other techniques, resulting in lasting, successful therapeutic results.
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PMID:Role of cryosurgery and MRI for Parkinson's disease. 891 24

We report a 55-year-old woman who developed symptoms resembling parkinsonism. Her psychiatric symptoms in the early stage, cervical dystonia and tremor increasing on movement were consistent with manganese poisoning. Manganese levels were elevated to 1.5 micrograms/l in the serum (normal; 0.3-1.1 micrograms/l) and to 1.4 micrograms/l in the urine (normal; less than 1.2 micrograms/l). Intravenous infusion of calcium disodium editate (CaEDTA; chelating agent) was followed by the marked excretion of manganese (27.3 micrograms/l) in the urine. These findings support manganese poisoning. Manganese poisoning is a disease which results from chronic exposure to manganese, but the source of manganese exposure remained obscure in this patient. T1-weighted MRI of the brain showed symmetric high signal intensity in the globus pallidus without any abnormality on T2-weighted images. There is a report that manganese induced brain lesions in Macaca fascicularis as revealed by MRI and the fascicularis developed signs of unsteady gait and hypoactivity. The patient responded to treatment with CaEDTA and the second MRI demonstrated regression of abnormal signal intensity. This may be due to enhanced manganese excretion. To our knowledge, this is the first case of probable manganese-induced human parkinsonism whom changes in MRI were noted after treatment with CaEDTA.
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PMID:[A patient with parkinsonism presenting hyperintensity in the globus pallidus on T1-weighted MR images: the correlation with manganese poisoning]. 893 1

A 38 year old patient with megalencephaly, mental retardation, and lifelong tremor developed levodopa responsive parkinsonism in his mid-30s followed by the appearance of dyskinesiae, motor fluctuations, hallucinations, and dementia. Brain MRI showed, as well as other changes, iron deposition in the globus pallidus, substantia nigra, and the pulvinar of the thalamus. Postmortem examination disclosed depigmentation of the substantia nigra pars compacta with neuronal loss, gliosis, and Lewy body formation. Axonal dystrophic spheroids, neuronal loss, calcification, and iron deposition were found in the substantia nigra pars reticulata. Less severe changes without neuronal loss were seen in the globus pallidus. This combination of megalencephaly with neuroaxonal changes predominantly in the pars reticulata and Lewy body degeneration isolated to the substantia nigra pars compacta has not been previously reported.
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PMID:Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease. 893 52


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