Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a family with autosomal dominant progressive supranuclear palsy (PSP) involving five generations which was confirmed in one patient. The proband presented with progressive slowness at age 53 years, followed by ocular palsy, loss of balance, axial dystonia, dysphagia and dysarthria, and died at age 59 years. Neuropathological examination revealed moderate numbers of neurofibrillary tangles without prominent senile plaques in the cortex, and neuronal loss, gliosis and moderate to severe accumulation of tangles in the basal ganglia and brainstem. Other affected relatives, including the proband's sister, father, paternal uncle, and other members of earlier generations presented with non-characteristic akinetic syndromes, which progressed towards more typical PSP only after several years of disease. A review of the literature revealed six other families with neurodegenerative disorders associated with pathological findings compatible with PSP in at least one member. The clinical symptoms varied greatly between individuals in these families. The pattern of inheritance seems compatible with autosomal dominant transmission, although other patterns of transmission could not be excluded. We conclude that there is an autosomal dominant form of PSP and that the number of hereditary cases may be greater than previously thought. The rarity of familial cases of PSP could be attributed to diagnostic problems, including lack of recognition of atypical cases and death of the gene carriers before the age of appearance of the clinical symptoms. Large families with hereditary PSP could provide an adequate point of departure for investigation of the gene defect responsible for this disease.
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PMID:Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 749 73

Progressive supranuclear palsy (PSP) is characterized by supranuclear ophthalmoplegia mainly affecting vertical gaze, nuchal dystonia in extension, pseudobulbar palsy, and mental changes. The literature on PSP has been neurologically oriented whereas the psychiatric aspects have been relatively neglected. A review of the literature shows that psychiatric disturbance in PSP is common but with no characteristic pattern. Cognitive impairment, nonspecific affective and behavioral disturbances are commonly found, whereas frank psychosis or bipolar disorder are rare. Misdiagnoses with psychiatric disorders are common and a heightened awareness of the condition is necessary for early diagnosis.
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PMID:Psychiatric aspects of progressive supranuclear palsy. 778 84

A 63-year-old man was admitted to the hospital with a 1,5-year history of progressive dementia, supranuclear ophthalmoplegia, pseudobulbar palsy, rigidity and dystonia in the neck and the upper trunk. Magnetic resonance imagings showed severe atrophy of the frontal lobe and the brainstem. He was diagnosed as having progressive supranuclear palsy (PSP). Rigidity, nuchal dystonia, frequent micturition, and profuse sweating ameliorated after trazodone administration. Furthermore, additional administration of L-dopa and droxidopa improved his pseudobulbar palsy, akinesia, and lack of initiative. Single photon emission tomography using IMP after medication showed increased IMP-uptake in the frontal areas and the basal ganglia compared with that before medication. This patient illustrates a substantial role of impairments in the serotonin system in the production of some PSP symptoms.
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PMID:[A case of progressive supranuclear palsy showing improvement of rigidity, nuchal dystonia and autonomic failure with trazodone]. 783 44

We have seen 32 patients with "apraxia of lid opening" (ALO) in the following clinical settings: as an isolated condition (3 patients), idiopathic blepharospasm (BSP, 20 patients, including 4 familial cases), progressive supranuclear palsy (PSP, 7 patients), and dystonic parkinsonian syndrome (2 patients). Twenty-nine patients treated with botulinum toxin into the orbicularis oculi muscle were rated before and after treatment and 83% of the patients improved on a clinical scale. Best results were obtained with injections directed toward the junction of the preseptal and pretarsal parts of the palpebral orbicularis oculi. Several patients also improved on anticholinergic drugs. Besides medical treatment, lid crutches, in conjunction with botulinum toxin injections, were useful in some patients. ALO is not a true apraxia; it constitutes an eyelid dystonia as shown by its clinical and electrophysiological features as well as pharmacological reactions and is encountered in a clinical spectrum ranging from an isolated form to predominant BSP. It was an important cause of treatment failures in botulinum toxin-treated BSP but by modifying our injection strategy and by adding anticholinergic drugs and also lid crutches, we obtained a good functional benefit.
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PMID:"Apraxia of lid opening," a focal eyelid dystonia: clinical study of 32 patients. 855 31

All cases examined postmortem at the Mayo Clinic that met the classic neuropathological criteria for progressive supranuclear palsy (PSP) were identified for retrospective clinical analyses. The necropsy material was re-examined by a second neuropathologist to confirm the pathological diagnosis of PSP, yielding 12 cases. A range of clinical signs were documented in these patients, with numerous findings beyond those noted in the original descriptions of this disorder. Atypical clinical findings included absence of supranuclear gaze palsy (two cases), prominent asymmetry (two), arm dystonia (two), upper limb apraxia (two), myoclonus (two), chorea (one), eyelid opening apraxia (one), and respiratory disturbance (one). A definite clinical diagnosis of PSP had been made during life in only eight of the 12 patients. From the retrospective analysis of these 12 cases, a set of clinical criteria were developed for the premortem diagnosis of PSP emphasising differences from other akinetic-rigid disorders.
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PMID:Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria. 767 78

The Steel-Richardson-Olszewski syndrome (progressive supranuclear palsy: PSP) was described over a quarter of a century age. Although the full expressed form is very typical, it is overlooked due to unusual ways without axial dystonia and opthalmic signs, with akinesia and dysequilibrium. The many reports of PSP suggested that the abnormalities of it were vaster than Parkinson's disease. The abnormalities of neurotransmitters or neuromodulators were found not only dopamine system but also serotonin and acetylcholine system. On the basis of them, the various trials of neurotransmitter replacement were done without very successful results so far. Transplantation and nerve growth factor are also tried to treat PSP now.
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PMID:[Steele-Richardson-Olszewski syndrome]. 790 88

Progressive supranuclear palsy (PSP) is characterized clinically by supranuclear gaze palsy, neck dystonia, parkinsonism, pseudobulbar palsy, gait imbalance with frequent falls and frontal lobe-type dementia. In the advanced typical case, when supranuclear gaze palsy and other main features are present diagnosis is relatively easy. Diagnostic problems, though, are frequent in the early stages due to the variable clinical presentation and in those atypical cases in which gaze palsy does not develop or that present as a severe dementia disorder or as an isolated akinetic-rigid syndrome. In this review we summarize the clinical features of PSP and emphasize those aspects helpful in the differential diagnosis with Parkinson's disease and other motor and cognitive disorders that can pose difficult diagnostic problems. Clinical diagnostic criteria are also discussed and modifications of those currently in used are proposed.
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PMID:Clinical diagnosis and diagnostic criteria of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). 796 84

To assess the extent of overlap between clinically diagnosed patients with progressive supranuclear palsy (PSP) and corticobasal ganglionic degeneration (CBGD) we compared clinical scores for rigidity, bradykinesia, supranuclear gaze abnormalities, hemineglect and limb apraxia, postural instability, neck rigidity, and limb dystonia in 15 patients with a degenerative rigid-akinetic syndrome at presentation and at follow-up 3 to 120 months later. Only the presence of hemineglect, usually in combination with limb apraxia, was a reliable and early clinical factor for discriminating between these two conditions. These symptoms were present at admission in all 4 CBGD patients but not in any of the 11 PSP patients either at presentation or later during serial examinations. Though supranuclear ophthalmoplegia, neck rigidity, and postural instability were already observed in most CBGD patients at presentation, their scores remained low compared to those for PSP patients over the longterm. CT-scans and MRI were helpful in supporting clinically-based diagnoses made at presentation in that the vast majority of the PSP patients exhibited various degrees of midbrain atrophy and 50 percent of the CBGD patients exhibited asymmetric pericentral cortical atrophy.
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PMID:Progressive supranuclear palsy and corticobasal ganglionic degeneration: differentiation by clinical features and neuroimaging techniques. 796 99

We report an autopsy case of progressive supranuclear palsy (PSP) with a five-year clinical course. A 67-year-old man was suffering from a gait disturbance and mental deterioration. Neurological examination at the age of 71 revealed pseudobulbar palsy, horizontal ophthalmoplegia, and truncal dystonia, and a diagnosis of PSP was made. Mental deterioration including forgetfulness and character change was also noted, and the patient sometimes exhibited intermittent stuporous states. Cranial computed tomography and magnetic resonance images revealed moderate brain atrophy, predominantly in the frontal lobes. The patient died of bronchopneumonia at the age of 71. Neuropathological examination confirmed typical pathological changes of PSP, such as neuronal loss, neurofibrillary tangles, and fibrillary gliosis in the subcortical nuclei. Gallyas-Braak silver impregnation revealed neurofibrillary tangles, silver-positive glia and thread-like structures in degenerating subcortical nuclei. In addition to these classical lesions, the argentophilic structures were detected in the cerebral cortex, cortical white matter and cerebellar white matter. In the cerebral cortex, they were abundant mostly in the precentral gyrus and subcortical white matter. Immunohistochemical studies revealed that most silver-positive structures were also tau 2 antibody-positive. Thus, these argentophilic structures seemed to be closely related to abnormal tau protein. Their distribution in this case implies that lesions related to abnormal tau protein may occur more extensively in the brains of PSP than expected.
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PMID:[Widespread argentophilic structures in progressive supranuclear palsy--an autopsy case report]. 806 Jun 88

We performed a therapeutic trial with the glycine precursor, milacemide, on 10 patients with intractable movement disorders. Six had myoclonus of various etiologies and one each had progressive supranuclear palsy, Filipino X-linked dystonia with parkinsonism, painful legs and moving toes, and stiff-person syndrome. Milacemide was initiated at a dose of 2,400 mg/day, orally, and increased gradually to a maximum of 4,800 mg/day. No clear-cut observable improvement occurred. There were no serious adverse effects.
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PMID:Therapeutic trial of milacemide in patients with myoclonus and other intractable movement disorders. 823 58


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