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

Animal data indicate that serotonin (5-HT) is a major neurotransmitter involved in the control of numerous central nervous system functions including mood, aggression, pain, anxiety, sleep, memory, eating behavior, addictive behavior, temperature control, endocrine regulation, and motor behavior. Moreover, there is evidence that abnormalities of 5-HT functions are related to the pathophysiology of diverse neurological conditions including Parkinson's disease, tardive dyskinesia, akathisia, dystonia, Huntington's disease, familial tremor, restless legs syndrome, myoclonus, Gilles de la Tourette's syndrome, multiple sclerosis, sleep disorders, and dementia. The psychiatric disorders of schizophrenia, mania, depression, aggressive and self-injurious behavior, obsessive compulsive disorder, seasonal affective disorder, substance abuse, hypersexuality, anxiety disorders, bulimia, childhood hyperactivity, and behavioral disorders in geriatric patients have been linked to impaired central 5-HT functions. Tryptophan, the natural amino acid precursor in 5-HT biosynthesis, increases 5-HT synthesis in the brain and, therefore, may stimulate 5-HT release and function. Since it is a natural constituent of the diet, tryptophan should have low toxicity and produce few side effects. Based on these advantages, dietary tryptophan supplementation has been used in the management of neuropsychiatric disorders with variable success. This review summarizes current clinical use of tryptophan supplementation in neuropsychiatric disorders.
 ...
PMID:L-tryptophan in neuropsychiatric disorders: a review. 130 30

We describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with [18F]6-fluoro-L-dopa (6FD) were performed in 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD (p less than 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration.
 ...
PMID:Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. 141 1

A 12-year-old boy was admitted to our hospital in May 1990. Since two years previously, he became restless and could not adapt himself to his new school mates and teacher. He came to refuse going to school, and his intellectual performance rapidly deteriorated, thereafter. During the following two years, he gradually became mutic and incontinent with dystonic involuntary movements, and was admitted to our hospital. Examination revealed melanoderma, mutism, dementia and grossly normal visual and auditory system except for bilateral optic atrophy. Volitional movements were severely limited because of marked truncal and extreme dystonia and spastic paresis. Urinary 17-KS and 17-OHCS were decreased. Serum cortisol did not increase normally on rapid ACTH test. Very-long-chain fatty acids in serum were increased. Serial CTs and MRI demonstrated marked ventricular dilatation and diffuse white-matter lesions involving the frontal lobes, corpus callosum, internal capsules, and less markedly parieto-occipital regions with slight calcification in the optic radiations. Those in the frontal lobes had been visualised in CTs taken 18 months after the onset. School refusal, the initial symptoms of the patient, is one of serious socioeducational problems in Japan. While the majority of children with school refusal might be of non-organic affections, those with apparent mental deterioration and behavioral abnormalities should undergo non-invasive CT or MRI evaluation during the early stage of the disorder. And if diffuse white matter lesions is suggested even in the frontal lobe, the possibility of adrenoleuko-dystrophy should be considered.
 ...
PMID:[A case of adrenoleukodystrophy having progressed from the frontal lobes]. 142 38

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.
 ...
PMID:Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. 144 70

The case of a 15 year old male patient with progressive dystonia, dysarthria and dementia is presented. No diagnosis could be found on clinical grounds. Low field MRI (0.23 T) demonstrated bilateral necrosis in the globus pallidus of clinically unknown etiology. Only high field imaging (2.0 T) revealed a pattern of lesions which is supposed to be specific for Hallervorden-Spatz disease (HSD): bilateral symmetrical decreased signal intensity in the globus pallidus secondary to the T2* effect of paramagnetic substances, principally iron. The neuroradiological differential diagnosis and pathognomonic signs of HSD are discussed.
 ...
PMID:[Nuclear magnetic resonance tomography and differential diagnosis of Hallervorden-Spatz disease]. 156 66

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
 ...
PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia. Investigations revealed hypoprebetalipoproteinemia, acanthocytosis, atypical retinitis pigmentosa, and evidence of iron deposition in the pallidal nuclei. Electroneuromyography and skin and sural nerve biopsies were normal. The "eye-of-the-tiger" sign, used to describe the pallidal nuclei in Hallervorden-Spatz syndrome, was present on T2-weighted MRIs (GE Signa, 1.5 T). Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction. This case differs phenotypically from the previous reports of Hallervorden-Spatz disease with acanthocytosis by the presence of prominent orofacial dyskinesia and abnormal serum lipoproteins.
 ...
PMID:Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome). 173 3

We described a 41-year-old woman with idiopathic, symmetrical, non-arteriosclerotic, intracerebral calcification (Fahr's disease), associated with multiple myeloma. CT scans revealed severe calcification in the basal ganglia, floors of cortices, subcortical white matter, brainstem and cerebellum without calcification in the spinal cord. Cerebral angiography showed no evidence of arteriosclerosis. The cerebral blood flow measured by SPECT, parathyroid function and calcium metabolism were within normal range. The initial symptom was dystonia and spasticity in the left leg, when she was 30 years old, followed by gait disturbance, speech impairment, micrographia and dementia. M-proteinemia was pointed out when she 32 years old. M-proteinemia, which was due to primary benign monoclonal immunoglobulinemia (PBMI), made progress slowly, followed by multiple myeloma when she was 40 years old. Periodical CT scans revealed that the intracerebral calcification had worsened gradually through 8 years. Neurological abnormality had also progressed slowly. In literature, there has not been any report about Fahr's disease associated with PBMI and multiple myeloma. Our present study is the first to radiologically prove that the intracerebral calcification in Fahr's disease progresses gradually through its course.
 ...
PMID:[A case of idiopathic, symmetrical non-arteriosclerotic, intracerebral calcification (Fahr's disease) associated with M-proteinemia, followed by multiple myeloma]. 178 68

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


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