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)

Progressive supranuclear palsy (PSP) is characterized by supranuclear palsy of gaze, axial dystonia, bradykinesia, rigidity, and a progressive dementia. Pathological changes in this disorder are generally restricted to subcortical structures, yet the type and range of cognitive deficits suggest the involvement of many cerebral regions. We examined the extent of functional impairment to cerebral cortical and subcortical structures as measured by the level of glucose metabolic activity at rest. Fourteen patients with PSP were compared to 21 normal volunteers of similar age using 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Glucose metabolism was reduced in the caudate nucleus, putamen, thalamus, pons, and cerebral cortex, but not in the cerebellum in the patients with PSP as compared to the normal subjects. Analysis of individual brain regions revealed significant declines in cerebral glucose utilization in most regions throughout the cerebral cortex, particularly those in the superior half of the frontal lobe. Declines in the most affected regions of cerebral cortex were greater than those in any single subcortical structure. Although using conventional neuropathological techniques the cerebral cortex appears to be unaffected in PSP, significant and pervasive functional impairments in both cortical and subcortical structures are present. These observations help to account for the constellation of cognitive symptoms in individual patients with PSP and the difficulty encountered in identifying a characteristic psychometric profile for this group of patients.
 ...
PMID:Cerebral hypometabolism in progressive supranuclear palsy studied with positron emission tomography. 326 62

A series is presented of 106 patients with extrapyramidal syndromes treated by stereotaxy. The importance of preoperative screening to assure favorable results is stressed. Surgical contraindications are elderly patients with dementia and akinesia. Axial dystonia and spasmodic torticollis respond poorly to stereotaxy; and bilateral interventions should be avoided.
 ...
PMID:Stereotaxis and abnormal movements. 331 88

A 32-year-old man with rapidly progressive dementia, pyramidal signs, myoclonic jerks and dystonic movements died following brain biopsy. neuropathological examination revealed minimal neuronal loss accompanied by mild spongiform change and astrocytic reaction. Numerous plaques and neurofibrillary tangles composed of paired helical filaments dominated the ultrastructural picture. This patient had features of both Creutzfeldt-Jakob disease and Alzheimer's disease, providing additional support for the existence of an overlap between these disorders.
 ...
PMID:Creutzfeldt-Jakob disease with plaques and paired helical filaments. 332 19

We compared 46 patients having onset of Parkinson's disease before age 45 years with 52 having onset after age 70. Young-onset cases more often presented with muscular stiffness (43%) and old-onset with difficulty walking (33%). One-third of young-onset cases had off-period dystonia, mostly affecting the legs, but no dystonia was recorded in old-onset cases. Presentation with rest tremor occurred in 41% of young-onset and 63% of old-onset. There were no differences in the number of affected relatives, endocrine disease, personality characteristics, dementia, or dyskinesia. A pathological study of 12 young-onset and 22 old-onset cases showed 24% greater nigral cell loss in the young, but no differences in the basic Lewy body pathology. Median disease duration in young cases was 5 years longer in the clinical study and 12 years longer in the pathological study. These studies show that the Parkinson's disease process is similar in young- and old-onset cases.
 ...
PMID:A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. 341 87

Mean-age of onset of Parkinson's disease is 56 years. The older the patient is the more rapid is on average the progression of disability. In the early phase the motor symptoms respond well to therapy. Later, variations of response to therapy and side-effects of therapy occur (wearing-off, end-of-dose akinesia, end-of-dose dystonia, dopaminergic abnormal involuntary movements, pharmacogenic psychoses etc.). Due to the modern pharmacologic treatment of Parkinson's disease with dopaminergic substances disabling stages of the disease occur mean 3 to 5 years later than before levodopa-substitution was initiated. The incidence of depression, distinct cognitive deficits (impairment of memory, visuospatial deficits) and dementia increases in the course of the disease. The tremulous form of Parkinson's disease generally leads to less motor impairment than the rigid-akinetic form. Parkinson's disease of early onset (onset before the age of 40), may be regarded as a subtype of Parkinson's disease. Benign and malignant types of Parkinson's disease may be distinguished, as well as overlaps with multisystem atrophies.
 ...
PMID:Nosography of Parkinson's disease. 346 66

The clinical picture of progressive supranuclear palsy is relatively constant, including supranuclear ophthalmoplegia, pseudobulbar palsy, axial dystonia in extension, parkinsonian signs, postural instability and dementia. A case is reported, which is unusual in having flexor dystonia of the neck and marked signs of lower motor neuron involvement.
 ...
PMID:Progressive supranuclear palsy with lower motor neuron involvement. A case report. 361 95

We report 15 cases of Rett syndrome, a slowly progressive disorder that occurs only in girls and is characterized by early deterioration of higher brain function with dementia and autistic behavior, loss of purposeful use of the hands, and deceleration of head growth. Epilepsy, with minor motor seizures being the predominant type, has its onset between 2 and 4 years of age in the majority of cases. Additional features include an extrapyramidal disorder with dystonia and choreoathetosis, and lactic acidemia. A precise biochemical marker of this disorder has not been identified.
 ...
PMID:Rett syndrome. A commonly overlooked progressive encephalopathy in girls. 372 2

Progressive supranuclear palsy (PSP) is a distinct clinicopathologic entity characterized by supranuclear ophthalmoplegia, pseudobulbar palsy, axial dystonia in extension, and subcortical dementia. Although relatively rare, PSP is disabling, thus rehabilitation techniques and management are indicated in nearly every case. This report describes the neurologic presentation, rehabilitation management, and outcome of treatment of a patient with PSP during a 12-month period. The patient required thorough neuromuscular, neuropsychological, speech, swallowing, vision, and social service evaluations prior to the implementation of a rehabilitation program. Therapeutic rehabilitation techniques focused on limb coordination activities, tilt board balancing, ambulation activities, and activities to improve route finding and visual scanning ability. Prism lenses were introduced to compensate for deficits in vertical eye movements. Treatment improved the patient's functional status. Later, as the patient's neurologic status deteriorated, it became necessary to educate the family and caretakers in the ongoing rehabilitation management of the patient.
 ...
PMID:Rehabilitation in progressive supranuclear palsy: case report. 372 94

Thirty-one patients with Wilson's disease were evaluated with detailed neurologic and medical examinations. Mean age (+/- SD) at onset was 21 +/- 5 years and at examination was 28 +/- 6 years. Of the 90% of patients who were first treated with penicillamine, 31% deteriorated initially despite therapy, and half never recovered to pretherapy baseline. At the time of our evaluations, the most common neurologic findings were dysarthria (97%), dystonia (65%), dysdiadochokinesia (58%), rigidity (52%), gait and postural abnormalities (42%), and tremor (32%). Chorea and dementia were rare. Twenty-two patients underwent magnetic resonance imaging. All but one of the 19 symptomatic patients had abnormal scans. The three asymptomatic patients had normal scans. Most lesions were seen in the caudate, putamen, subcortical white matter, midbrain, and pons. Generalized brain atrophy was also common. Lesions were less common in the thalamus, cerebellar vermis, midbrain tegmentum, globus pallidus, red nucleus, and dentate nucleus. Dystonia and bradykinesia correlated with putamen lesions, and dysarthria correlated with both putamen and caudate lesions.
 ...
PMID:Clinical assessment of 31 patients with Wilson's disease. Correlations with structural changes on magnetic resonance imaging. 382 91

Eleven cases of "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy" were first reported by Imai in 1980. Three cases were added by Hayashi and Hayashi (1983). However there have been so far no autopsy cases, remaining the nosological position of this syndrome uncertain. The authors have had an opportunity of observing the third case in the report by Hayashi and Hayashi for 8 years and autopsy was done as well. Case report The patient was a female farmer. On account of postural-reflex troubles, the pulsion phenomenon and feet freezing, which had progressed since the age of 54, she easily tumbled over. Eight years after the beginning of those symptoms, vertical oculomotor palsy, pseudobulbar palsy and dementia were added; she was diagnosed as a progressive supranuclear palsy. Before this diagnosis, her illness was being regarded as "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy". Neck dystonia was not observed even in the terminal stage. She died at the age of 65. The total clinical course was about 11 years. Pathological observation The brain weighed 1,170 g before fixation. Marked atrophy of the subthalamic nucleus, globus pallidus and pontine tegmentum was observed. The substantia nigra was shown to be severely depigmented. Microscopically, loss of neurons and gliosis were seen in the subthalamic nucleus, globus pallidus, substantia nigra, hypothalamus, superior colliculus, central grey matter, brain stem reticular formation, cerebellar dentate nucleus, etc. The characteristic finding was the appearance of neurofibrillary tangles in these regions.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[An autopsy case of progressive supranuclear palsy showing "pure akinesia without rigidity and tremor and with no effect by L-dopa therapy (Imai)"]. 382 55


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>