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)

The authors describe 14 personal cases of progressive supranuclear palsy, 8 of them including a neuropathological study. The analysis of this material confirms the characteristics of this nosological entity, which is now well individualized amongst the apparently idiopathic degnerative diseases of the CNS. The clinical picture was characterized in all cases by a supranuclear opthalmoplegia, a pseudo-bulbar syndrome, an axial dystonia and a 'subcortical' dementia of a particular type. The average duration of the disease was 4 years for the 12 patients followed until death; the first symptoms appeared at a slightly older age than the average reported in the literature. Males are not predominantly affected in our material. Lesions are remarkably homogeneous as to their localisation in all cases but one. The nuclei of cranial curves are moderately involved, the reticular substances throughout the brain stem is more severely effected. In two cases, senile degenerative lesions of the cerebral cortex are associated with subcortical lesions of the progressive supranulcear palsy. No anamnestic or histologic feature is suggestive of any etiology of this disease. L-Dopa with or within a Dopa-decarboxylase inhibitor did after alter neither the patients condition nor the course of the disease.
 ...
PMID:[Supranuclear progressive paralysis (or oculo-facial-cervical dystonia)]. 115 60

An autopsy case of progressive supranuclear palsy (PSP) associated with central pontine myelinolysis (CPM) is reported. A 73-year-old male patient suffered from gait disturbance for about 5 years. The clinical features were characterized by gradual development of supranuclear ophthalmoplegia, tremor, bradykinesia, rigidity, neck dystonia, dementia and pseudobulbar palsy at the advanced stage of his illness. Treatment with levodopa did not improve his neurological signs and symptoms. PSP or multiple system atrophy was considered as a clinical diagnosis of the patient. He died of pneumonia, acute pancreatitis and liver dysfunction in November 1985. The main neuropathological findings were neuronal loss and gliosis with neurofibrillary tangles of globose type in the globus pallidus, subthalamic nucleus, substantia nigra and dentate nucleus, and at the base of the pons, bilateral and symmetrical demyelination was found. In addition, myelin staining revealed circumscribed pallor in the cerebral white matter. The histologic diagnosis was PSP associated with CPM. An association of PSP with CPM is rare in the elderly and possible etiologic factors of both diseases were discussed.
 ...
PMID:[An autopsy case of progressive supranuclear palsy with central pontine myelinolysis]. 187 Feb 89

The clinical features and course of 14 patients with progressive supranuclear palsy (PSP) were analysed. PSP formed 2.3 percent of the parkinsonian population. Blepharospasm, hypersomnia, athetosis, action dystonia, action myoclonus and family history of dementia were the unusual features. Half of the patients had dementia at presentation. Drug therapy was uniformly disappointing. The mean duration from onset to death in 4 patients who died was 4.5 years. The histopathological features in a patient with the disease for one year and who died of acute myocardial infarction showed moderately severe changes characteristic of the disease.
 ...
PMID:Progressive supranuclear palsy. Report of 14 cases with special reference to unusual features. 193 53

Adult-onset dystonia-parkinsonism is a syndrome in search of a pathology. We therefore reviewed the literature on dystonic manifestations in autopsy-proven cases of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and idiopathic Parkinson's disease (PD). Only 6 of 140 autopsy reports of MSA remarked on the presence of dystonia in life, but personal observations suggest prominent antecollis may develop at some stage in up to 1/2 of sufferers. Similarly, very few (15/118) clinicopathologic observations on PSP included convincing dystonic manifestations, in contrast to some clinical reports where blepharospasm and early limb dystonia were prominent. Virtually any form of focal and segmental dystonia may sometimes occur with clinically diagnosed PD, with occasional descriptions of hemidystonia-hemiparkinsonism. However, there is pathologic confirmation of this diagnosis in only 1 case. With many patients thought clinically to have PD proving pathologically to have another cause for their parkinsonism, the true frequency and the range of dystonic manifestations acceptable in PD remain unknown.
 ...
PMID:Dystonia in Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. 221 50

Three patients with clinical and pathological features of corticobasal degeneration are described. They presented with a progressive disease bearing some clinical resemblance to Steele-Richardson-Olszewski syndrome and displaying some pathological features of Pick's disease. Their illness began at the age of 59 to 66 yrs with focal dystonia and myoclonus of an arm, the 'alien hand' sign, or an akinetic-rigid syndrome. They developed a supranuclear gaze palsy, parkinsonian features and mild cerebellar signs. Two patients showed constructional dyspraxia when using the arms. The duration of disease to death was 4 to 6 yrs. Pathological examination showed frontoparietal atrophy with cortical cell loss, gliosis and Pick cells, but there was no significant hippocampal disease or Pick bodies in this region. There was nerve cell loss and gliosis in the thalamus, lentiform nucleus, subthalamic nucleus, red nucleus, midbrain tegmentum, substantia nigra and locus coeruleus. Neuronal inclusions in the substantia nigra, termed corticobasal inclusions, were reminiscent of the globose neurofibrillary tangle of Steele-Richardson-Olszewski syndrome, and other pale inclusions resembled the pale body of Parkinson's disease, but Lewy bodies and neurofibrillary tangles were generally absent. Some nigral inclusions were similar to those in Pick's disease. Despite some pathological similarities to Pick's disease we suggest that the distribution of nerve cell loss and the corticobasal inclusion are unique to corticobasal degeneration.
 ...
PMID:Corticobasal degeneration. 2059 45

Nine cases of progressive supranuclear palsy are reported in this paper. There are 6 males and 3 females in this series. The average age at admission was 62 years. The clinical features of those cases are: (1) onset at the presenile with gradual progression, (2) supranuclear vertical ophthalmoplegia, especially downgaze paresis, (3) disarthria, (4) gait disturbances, (5) dystonia and rigidity of the limbs, (6) clumsiness and ataxia, (7) masked face, (8) bilateral pyramidal signs and (9) mental disturbances. The CT scan in this series showed dilatation of the ventricular system, enlargement of the Sylvius fissure and cortical sulci. There was also enlargement of quadrigeminal and cisterns in the CT scan. The CT diagnosis were cerebral atrophy in 9 cases and brainstem atrophy in 8 cases in this series.
 ...
PMID:[Progressive supranuclear palsy]. 263 3

Two cases of progressive supranuclear palsy (PSP) with palilalia were presented. Case 1: A 64-year-old woman was in good health until age 62 when she noted clumsiness in walking. Subsequently, forgetfulness, abrupt falls and difficulty in swallowing developed. At the age of 63, she tended to repeat same words in conversation. On admission, neurological examination revealed mental deterioration (Hasegawa's scale 19), unsteady emotional state, supranuclear vertical gaze palsy, pseudobulbar palsy, nuchal dystonia, pyramidal tract signs and extrapyramidal signs. Although spontaneous speech production was reduced, she could answer to questions with compulsive repetition of a phrase or word. She always repeated twice or three times without stuttering, logoclonus or "palilalie aphone". Case 2: A 68-year-old, right-handed woman noted double vision since about one year ago. Subsequently, she developed slowness of voluntary movement, forgetfulness and difficulty in walking. Neurological examination showed similar signs as Case 1. She was not palilaic on examination, however we found the description of her palilalia on nurse's working records. Palilalia was not present so constantly as Case 1, but continued for about a year. We suppose that palilalia is not a rare phenomenon in PSP. Although the pathogenesis of palilalia is unknown at present, we speculate the combination of extrapyramidal sign, pseudobulbar palsy and dementia may most contribute the pathogenesis of palilalia on PSP.
 ...
PMID:[Palilalia associated with progressive supranuclear palsy]. 267 8

Progressive supranuclear palsy (PSP) is a syndrome of supranuclear ophthalmoplegic palsy, pseudobulbar palsy, rigidity of the limbs, nuchal dystonia, and dementia in which the gaze palsy is the hallmark of the disease. Most neurologists are reluctant to consider the diagnosis unless visual problems exist. Since the earliest complaints of PSP are said to be variable and subtle, accurate diagnosis is often delayed and initial pathologic changes of the disease not well studied. Two patients came to autopsy with dementia, gait disturbances, and/or dysarthria but no eye findings by history or physical exams. Symptoms had been attributed to metastatic cancers. At autopsy prominent globose neurofibrillary tangles with variable cell loss, microglial nodules, and neuronophagia were found in the locus ceruleus, third cranial nerve complex, nucleus supratrochlearis, nucleus centralis superior, and nucleus basalis of Meynert with mild pallor of the globus pallidus, mild cell loss in the dentate nucleus of the cerebellum, and sparing of the superior colliculus. The diagnosis of early PSP was made. These cases serve to 1) detail the more limited neuropathologic changes in early PSP, 2) reemphasize that the earliest clinical symptoms of PSP are not gaze palsies, and 3) remind clinicians to consider PSP in their differential diagnosis in patients with gait disturbances, dementia, and/or dysarthria, and 4) document PSP in association with carcinoma in two cases.
 ...
PMID:Early progressive supranuclear palsy: pathology and clinical presentation. 272 Oct 44

Leukocyte glutamate dehydrogenase (GDH) activity was measured in 39 normal subjects, 32 neurological controls, 66 patients with progressive ataxic disorders, 32 with multiple system atrophy, 40 with Parkinson's disease, eight with Steele-Richardson-Olszewski syndrome, eight with juvenile Parkinsonism and four with the dystonia-Parkinsonism syndrome. GDH activity was reproducible to within 10% in leukocyte pellets stored at -70 degrees C for up to 9 months, and did not vary with sex or age in control subjects. There was marked variation in the relative proportions of heat stable and heat labile forms of GDH between control subjects and on repeated assay in the same subject. Total leukocyte GDH activity was similar in normal subjects and neurological controls. Mean total GDH activity was reduced in all patient groups by between 15 to 29% compared with controls. Fourteen patients had total GDH activity below 50% of the control mean, but low values were not specific for any one disease (five had ataxic disorders, four Parkinson's disease, three multiple system atrophy, one juvenile Parkinsonism, and one dystonia-Parkinsonism). The heat labile fraction of GDH represented about 20% of total activity in control subjects, and 27% in the patients with reduced total GDH activity. Thus low GDH activity was not disease-specific in this study, and the heat-labile GDH fraction was not selectively affected. "Reduced" leucocyte GDH activity in some patients may represent no more than the lower end of a normal distribution.
 ...
PMID:Leukocyte glutamate dehydrogenase activity in patients with degenerative neurological disorders. 320 97

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


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