11/36. A case of adult onset pure pallidal degeneration. I. Clinical manifestations and neuropathological observations.We present a case of adult onset progressive neurodegenerative disease with a selective involvement in the globus pallidus (GP). The main symptom was extreme slowness in motion without rigidity, which was distinct from akinesia of parkinsonism. Dystonic posture developed in neck and fingers and mild rigidospasticity appeared in a later stage. Neuropathological examination shows a selective neuronal loss with gliosis in GP and degeneration of the efferent fibers. Although the subthalamic nucleus is slightly atrophic with minimal gliosis, there is no neuronal loss in the nucleus. The rest of the structures are pathologically insignificant. Because the pathological change is confined to GP neurons and their efferent fibers, we think that the marked slowness in motion and dystonic posture are ascribable to the selective GP lesion. A degenerative neurological disorder preferentially involved in GP was reported as pure pallidal degeneration (PPD). The onset of the PPD was in the first or second decades and the main symptoms were choreoathetosis, torsion dystonia and progressive rigidity. These distinct clinical features seemed to distinguish the present case from the previously described PPD. Therefore, we would like to call our case "adult onset" PPD. Clinicopathological correlation is discussed.- - - - - - - - - - ranking = 1keywords = subthalamic nucleus, subthalamic, nucleus (Clic here for more details about this article) |
12/36. Mid-brain pathology of Wilson's disease: MRI analysis of three cases.MRI scans were obtained from three patients with Wilson's disease, all of whom showed rigidity and dysarthria; two also showed tremor and dystonia. Two had been treated with D-penicillamine for seven and 14 years, respectively and their neurological abnormalities had improved, but the third patient had not been treated. T2-weighted MRI of the mid-brain in all three revealed the characteristic "face of the giant panda" sign, consisting of high signal intensity in the tegmentum except for red nucleus, preservation of signal intensity of the lateral portion of the pars reticulata of the substantia nigra and hypo-intensity of the superior colliculus. The clinical significance of these MRI abnormalities is discussed.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
13/36. Focal dystonia secondary to cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome.A variety of movement disorders have been reported in patients with acquired immune deficiency syndrome (AIDS) and cerebral toxoplasmosis. We describe a 29-year-old man with left arm and hand focal dystonia secondary to toxoplasma abscesses in the right lenticular nucleus and thalamus. Although a few cases of dystonia have been reported in AIDS, this patient represents the first reported case of focal dystonia secondary to toxoplasmosis.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
14/36. Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome.Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
15/36. adult onset Hallervorden-Spatz disease with neurofibrillary pathology. A discrete clinicopathological entity.Three adults with progressive cognitive decline and extrapyramidal dysfunction were studied. They were all mentally retarded women without known chromosomal abnormalities, ranging in age at the time of onset from 31 to 42 yrs with an average duration of illness of 6 yrs. Neurological signs were stereotyped and consisted of a unilateral equinovarus foot posture followed by progressive dementia, rigidity and quadriparesis. Identical pathological findings were noted in all cases. There was marked deposition of iron-containing pigments in the globus pallidus and reticulate zone of the substantia nigra. Numerous axonal spheroids were noted in these areas and in the gracile and cuneate nuclei. In addition to these typical changes of Hallervorden-Spatz disease (HSD), abundant neurofibrillary tangles (NFTs) were found within the hippocampus, neocortex, nuclei of basal forebrain, subthalamic nucleus and brainstem reticular formation. Rare Hirano bodies and granulovacuolar degeneration were noted within the hippocampus; neuritic plaques and amyloid deposits were absent. Ultrastructurally the NFTs were mostly paired helical filaments (PHFs) with a diameter of 20 to 25 nm and a half-periodicity of 80 nm. Straight filaments and incompletely twisted forms were also seen. Immunocytochemistry with polyclonal antibodies to PHFs was positive in a distribution identical to that of Bodian-positive NFTs. Biochemical analysis of frozen frontal cortex from 1 case revealed a 94% depletion of the cholinergic marker enzyme choline acetyltransferase. somatostatin-like immunoreactivity was within normal range. Study of 1 case with laser microprobe mass analysis revealed evidence of aluminium accumulation in tangle-bearing hippocampal neurons. Adjacent tangle-free neurons failed to show comparable accumulations. These findings indicate that adult onset HSD occurring in mentally retarded individuals may represent a distinct clinicopathological entity associated with neurofibrillary pathology without amyloid deposition.- - - - - - - - - - ranking = 0.93033715653079keywords = subthalamic nucleus, subthalamic, nucleus (Clic here for more details about this article) |
16/36. meige syndrome: neuropathology of a case.Primary meige syndrome is a form of cranial dystonia of unknown cause. Only three postmortem studies have been reported, and the results of these studies have not been consistent. We have examined the brain of a 72-year-old man with typical primary meige syndrome and found mild to moderate cell loss in the zona compacta of the substantia nigra, locus ceruleus, midbrain tectum, and dentate nucleus of the cerebellum. Also frequent lewy bodies were present in pigmented nuclei of the brainstem. No abnormalities were detected elsewhere. These pathological findings support the notion that brainstem pathology is important in the pathophysiology of cranial dystonia.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
17/36. Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.The disease course and therapy of a nine-and-a-half-year-old boy with hyperphenylalaninemia due to a dihydropteridine reductase deficiency are reported. Clinically, there is a marked mental retardation and complex basal ganglion symptoms. The cranial computed tomographic investigation shows bilateral, symmetrical, comma-shaped calcifications in the globus pallidus and the putamen of the lentiform nucleus. The cause of these basal ganglion calcifications remains unclear. Lowering of serum and CSF folic acid levels could not be detected, in contrast to cases with the same enzyme defect described previously.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
18/36. pathology in brainstem regions of individuals with primary dystonia.Examination of brains from four individuals with the clinical diagnosis of primary dystonia revealed histopathologic abnormalities in two cases. A 29-year-old man with a 15-year history of dystonia musculorum deformans (DMD) had numerous neurofibrillary tangles (NFT) and mild neuronal loss within the locus ceruleus; occasional NFT were also recognized in the substantia nigra pars compacta, pedunculopontine nucleus, and dorsal raphe nucleus. A 68-year-old man with a 35-year history of meige syndrome had moderate-to-severe neuronal loss in several brainstem nuclei, including the substantia nigra pars compacta, locus ceruleus, raphe nuclei, and pedunculopontine nucleus. Infrequent NFT were also noted in substantia nigra. An examination of these and other brain regions in a 10-year-old boy with a 6-year history of DMD and a 50-year-old woman with a 3-year history of spasmodic torticollis did not disclose similar abnormalities.- - - - - - - - - - ranking = 0.20898853040764keywords = nucleus (Clic here for more details about this article) |
19/36. Remote effects of caudate hemorrhage: a clinical and functional study.Clinical, anatomical and functional findings in two cases of previous caudate nucleus hemorrhage, with good recovery, are presented. CBF data obtained with SPECT and 123 I-HIPDM well correlate with functional residual deficit, despite normal TCT examinations. These observations are suggestive of a partial "wallerian" diaschisis.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
20/36. Limb apraxia in patients with damage confined to the left basal ganglia and thalamus.Limb apraxia was investigated with standardised tests in 14 patients whose CT scan provided evidence of a vascular lesion confined to the left basal ganglia, or the thalamus, or both, and not involving the cortex or adjacent white matter. Five patients were severely impaired in imitating movements and pantomiming object use. Four of them also performed poorly when tested with real objects. In two patients the lesion was primarily thalamic and in three the lesion was primarily in the lenticular nucleus and the posterior limb of the internal capsule. patients without apraxia generally had smaller injuries, but there were exceptions. Apraxia is currently conceived of as due to damage of cortical areas and their cortico-cortical connections, but the present data suggest that the model should be enlarged to include the deep nuclei and the pathways running through them.- - - - - - - - - - ranking = 0.069662843469214keywords = nucleus (Clic here for more details about this article) |
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