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)

We present an autopsied case of striatonigral degeneration (SND) combined with olivopontocerebellar atrophy (OPCA) with subcortical dementia and hallucinatory state. A Japanese woman without a remarkable family history showed hand tremor at the age of 35 years, followed by bradykinesia, muscle rigidity, orthostatic hypotension, neurogenic bladder and pyramidal signs. No obvious cerebellar symptoms were found. Various antiparkinsonian drugs were administered, but were not markedly effective for the parkinsonism. She developed a mild dementia characterized by mild memory disturbance with preservation of orientation, slowing of thought processes, emotional lability toward sadness, impaired ability to manipulate acquired knowledge and poor calculating, and by the absence of aphasia, apraxia and agnosia. The features in this patient were consistent with those seen in subcortical dementia. She also had auditory hallucinations. MRI revealed hypointense T2 signals in the putamina and substantia nigra. T1-weighted MRI demonstrated atrophy of both the pons and cerebellum in addition to atrophy of the putamina and substantia nigra. EEG showed slowing of background activity. She died of cardiac failure at the age of 47. Autopsy disclosed brain stem tegmental atrophy, SND, OPCA and many glial cytoplasmic inclusions in the central nervous system, but well-preserved cerebrum. We discuss the relationship between the psychiatric symptoms and pathologic findings of brain stem tegmentum.
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PMID:Striatonigral degeneration combined with olivopontocerebellar atrophy with subcortical dementia and hallucinatory state. 755 Jun 4

An autopsied case of Creutzfeldt-Jakob disease is reported. A 79-year-old Japanese female showed extrapyramidal sign (resting tremor, and rigidity) and dementia. She developed myoclonus and became akinetic within one year from the onset, and then died of pneumonia at age of 81. None of the members of her family had neuromuscular disorders. CT and MRI studies revealed progressive brain atrophy. Consecutive study of EEG did not reveal periodic synchronous discharges (PSD). Codon 129 polymorphism (Met/Val) and codon 180 point mutation (Val/Ile) were detected. The autopsy revealed spongiform change of cerebral cortex and negative Kuru plaques, confirming the diagnosis of Creutzfeldt-Jakob disease. Immunohistochemical study revealed weak synaptic prion staining. Western blot analysis showed positive Proteinase K resistant prion protein. Gene analysis of autopsied brain showed the same prion DNA polymorphism and mutation. The combination of codon 129 polymorphism and 180 point mutation might associate with an atypical clinical form of CJD, which shows the extrapyramidal signs at the onset, and negative PSD in EEG.
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PMID:[An autopsy-verified case of Creutzfeldt-Jakob disease with codon 129 polymorphism and codon 180 point mutation]. 761 52

To evaluate the possibility that parkinsonian signs may be the only presenting feature of multiple system atrophy (MSA), parkinsonian patients were studied who had no atypical clinical signs and had no symptoms of autonomic dysfunction, but who reported that they had not experienced the anticipated good response to dopaminergic treatment. These stringent criteria identified 20 patients from a series of 298 consecutive parkinsonian outpatients. The following clinical pointers were analysed: (a) rate of disease progression; (b) symmetry of parkinsonian symptoms and signs; (c) occurrence of resting tremor during the first three years from onset. In addition, all patients underwent (d) acute and chronic challenge with dopaminergic drugs; (e) cardiovascular reflex autonomic function tests; (f) high field MRI. Rapid progression of disease was seen in 45% of patients, onset was symmetric in 25%, tremor was absent at onset in 70%, response to dopaminergic drug challenges was inadequate in 40%, abnormal cardiovascular reflexes occurred in 50%, and some abnormal MRI finding occurred in 35% of cases. Each of these features was equally weighted by giving to each patient a 0 to 6 point score corresponding to the number of abnormal findings. Fifteen patients scoring higher than 1 were considered at risk for having MSA: five of them were classified as clinically possible (score 2), six as clinically probable (score 3-4), and four patients were classified as clinically definite multiple system atrophy (score 5). The six pointers considered were variably combined in each patient, none of them being universally abnormal in patients with high scores. The patients were followed up for a mean 2.1 (SEM 0.65) years. All but one of the 10 patients prospectively classified as probable or definite MSA developed unequivocal clinical signs of fully symptomatic MSA. A receiver operator characteristic cure was plotted for the prospective score based on follow up diagnosis. The best compromise for trade off between sensitivity and specificity was a cut off value at a score of 3. The sensitivity and specificity of the individual pointers considered to predict fully symptomatic MSA varied considerably, and no single item could predict whether patients presenting with just parkinsonian signs went on during the two year follow up period to develop fully symptomatic MSA. Instead, the number of abnormalities offered a predictive value for the clinical prognosis of these parkinsonian patients.
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PMID:Multiple system atrophy presenting as parkinsonism: clinical features and diagnostic criteria. 762 28

Previous studies suggest that Leber's hereditary optic neuropathy (LHON) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and eight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis--namely, patients with the 11778 or with the 3460 mutation and patients without these primary mutations. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Movement disorders were the most common finding; nine patients had constant postural tremor, one chronic motor tic disorder, and one parkinsonism with dystonia. Four patients had peripheral neuropathy with no other evident cause. Two patients had a multiple sclerosis-like syndrome; in both patients MRI showed changes in the periventricular white matter. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with involvement of the brain stem. It is suggested that various movement disorders, multiple sclerosis-like illness, and deformities of the vertebral column may associate pathogenetically with LHON.
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PMID:Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. 762 30

A historical group of 45 children (4-18 years) and adults (18-39 years) with classical galactosemia had deficits of cognitive function that were variable and not related to the age at diagnosis or to severity of illness at presentation. There was a trend for patients to score highest on visual processing tasks. The standardized tests of speech and memory skills fell within the same range as the Broad Cognitive Ability score, indicating that the speech and language deficits may be part of a more global set of cognitive impairments. Scores on the Beery Visual Motor Integration and Block Design Tests fell in approximately the same range as other cognitive abilities. In addition, there was a high incidence of abnormality detected on MRI and 12 patients had neurologic symptoms that included ataxia, tremor and dysmetria. These abnormalities did not correlate with the age at diagnosis, severity of illness at presentation or scores on cognitive testing. The pathophysiology of neurologic and neuropsychologic impairments remains unknown. Since these appear to be unrelated to the duration of galactose exposure, other factors impacting on outcome need to be understood so that strategies can be developed to improve what appears to be a global impairment of cognitive function.
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PMID:Cognitive functioning, neurologic status and brain imaging in classical galactosemia. 767 58

Hereditary haemochromatosis is characterised by excessive parenchymal iron deposition, particularly in the liver. Usually hereditary haemochromatosis is not associated with neurological symptoms and iron deposition in the brain has not previously been described as a pathological phenomenon. A patient is reported with hereditary haemochromatosis and a syndrome of dementia, dysarthria, a slowly progressive gait disturbance, imbalance, muscle weakness, rigidity, bradykinesia, tremor, ataxia, and dyssynergia. The findings on MRI of a large signal decrease in the basal ganglia, consistent with excessive iron accumulation, indicate a causal relation to the symptoms. Although the neurological symptoms did not improve in our patient, hereditary haemochromatosis should be considered in the differential diagnosis of parkinsonian syndromes, because complications of iron induced organ injury may be prevented by phlebotomy.
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PMID:Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome. 767 67

In order to investigate the diagnostic value of 3H-spiperone binding capacity to lymphocytes in the differential diagnosis of de novo Parkinson's disease (idiopathic Parkinson syndrome, PD), we performed a double blind prospective study of spiperone binding capacity of 123 patients and 23 healthy control persons, belonging to different diagnostic groups (PD, Parkinsonian syndrome due to vascular lesions, multiple system atrophy [MSA], essential tremor). Diagnoses were based on medical history, clinical examination, CT or MRI scan, acute response to dopamimetic drugs, one year follow up, and long term response to L-DOPA treatment. Spiperone binding was assayed using ten different concentrations (0.03-3 nmol) in absence or presence of 1 mumol (+)-butaclamol to determine nonspecific binding. There was no significant difference in spiperone binding between patients with PD not treated with L-DOPA, and patients with other basal ganglia disorders including parkinsonian syndrome due to vascular lesions, multiple system atrophy, or progressive supranuclear palsy, and age matched controls. Binding was significantly higher in parkinsonian patients with PD treated with L-DOPA and patients with essential tremor. It is concluded that at present 3H-spiperone binding gives no further information in the differential diagnosis of de novo Parkinson's disease.
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PMID:3H-spiperone binding to lymphocytes fails in the differential diagnosis of de novo Parkinson syndromes. 768 43

Eighteen patients with medically intractable Parkinson's disease that was characterized by bradykinesia, rigidity, and marked "on-off" fluctuations underwent stereotactic ventral pallidotomy under local anesthesia. Targeting was aided by anatomic coordinates derived from the MRI, intraoperative cell recordings, and electrical stimulation prior to lesioning. A nonsurgically treated group of seven similarly affected individuals was also followed. Assessment of motor function was made at baseline and at 3-month intervals for 1 year. Following the lesioning, patients improved in bradykinesia, rigidity, resting tremor, and balance with resolution of medication-induced contralateral dyskinesia. When compared with preoperative baseline, all quantifiable test scores after surgery improved significantly with the patients off medications for 12 hours: UPDRS by 65%, and CAPIT subtest scores on the contralateral limb by 38.2% and the ipsilateral limb by 24.2%. Walk scores improved by 45%. Medication requirements were unchanged, but the patients who had had surgery were able to tolerate larger doses because of reduced dyskinesia. Ventral pallidotomy produces statistically significant reduction in parkinsonism and contralateral "on" dyskinesia without morbidity or mortality and with a short hospitalization in Parkinson's disease patients for whom medical therapy has failed.
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PMID:Stereotactic ventral pallidotomy for Parkinson's disease. 772 66

The objective was to investigate the anatomical substrate of ataxia seen after severe head injury. Five patients were recruited from present and former inpatients at Rivermead Rehabilitation Centre. All patients had had a closed head injury and all had cerebellar type ataxia. Four normal controls were also studied. Brain MRI, clinical examination, computer based recording, and analysis of visuomotor tracking were carried out. Focal damage was found in the superior cerebellar peduncle in all five ataxic patients. The patients' tracking movements showed profound tremor, and unusual reliance on visual feedback. Ataxia seen after severe head injury can arise from damage to the superior cerebellar peduncle, which may interfere with the cerebellocortical circuits involved in coordinated movement.
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PMID:Damage to cerebellocortical pathways after closed head injury: a behavioural and magnetic resonance imaging study. 773 49

A 64-year-old right-handed man was admitted because of increasing clumsiness of the right hand and difficulty in walking since 8 months earlier. The WAIS revealed verbal IQ 124, performance IQ 104 and full scale IQ 115. Neurological examination revealed slight dysarthria and normal eye movements. The right upper extremity showed Gegenhalten, tremor, dystonic elbow flexion, marked grasp reflex, grasping and groping behavior. Voluntary movements were slow and clumsy on the right side. However, neither ideational nor ideomotor apraxia was observed. Tendon reflexes were slightly exaggerated on the right side. Plantar responses were normal. The patient had difficulty in initiating forward walking and turning movements. Once started, he walked dragging his right foot ahead of the left with short steps. A line on the floor was of no benefit. He could not stride across the line on the floor in front of him. Analysis of gait with floor reaction force revealed that the single step rhythm of his frozen gait was about 1.5 Hz, which contrasted with the high frequency seen in Parkinson's disease. MRI demonstrated atrophy of the frontal and parietal lobes on both sides. 123I-IMP single-photon emission CT demonstrated severe hypoperfusion of the left frontal and parietal lobes. Frozen or shuffling gait is a popular symptom as well as unsteady gait and tendency to fall in corticobasal degeneration. It may result from the frontal lobe dysfunction. Lack of improvement in freezing by the visual input contrasts with Parkinson's disease and may be related to dysfunction of the mesial part of the frontal lobe or the parietal lobe involved in corticobasal degeneration.
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PMID:[Analysis of gait disturbance in a patient with corticobasal degeneration]. 778 Dec 31


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