1/20. Changes of copper-transporting proteins and ceruloplasmin in the lentiform nuclei in primary adult-onset dystonia.A recent study reported an increase of brain tissue copper content in the lentiform nuclei of patients with primary adult-onset dystonia. In this study we analyze copper-metabolizing proteins (Menkes protein, Wilson protein, ceruloplasmin) by Western blot analysis in frozen brain tissue (lentiform nuclei) of 3 patients with primary dystonia. Menkes protein was reduced in all patients, while Wilson protein and ceruloplasmin were increased in the 2 patients with focal dystonia and reduced in the patient with generalized dystonia. Our data provides further evidence for a disturbance of copper metabolism in primary dystonia.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/20. Progressive multifocal leukoencephalopathy presenting with an isolated focal movement disorder.Progressive multifocal leukoencephalopathy (PML) is a rare but fatal papovavirus infection of the central nervous system predominantly affecting immunocompromised patients. Although the basal ganglia circuitry may be involved in the pathology of PML, movement disorders are exceedingly rare as presenting symptoms and have not been described as isolated features in such patients. We report a previously healthy, immunocompetent 24-year-old woman with histologically proven PML who presented with a focal movement disorder of the left arm as an isolated symptom for many months before diagnosis.- - - - - - - - - - ranking = 0.042364248878256keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/20. Pseudodystonic hand posturing contralateral to a metastasis of the parietal association cortex.A 56 year-old patient, with a history of surgically removed breast cancer three years earlier, presented with incoordination of hand movements while playing piano. Neurological examination disclosed mild position sensory loss and limb-kinetic apraxia of the distal part of the right upper extremity. The most conspicuous neurological sign was a dystonic posturing of the right hand, which was only elicited when the patient outstretched her arms with the eyes closed. MRI revealed a metastatic lesion involving the left parietal cortex. The association of focal dystonic postures with lesions of the parietal association cortex indicates that dystonia may feature damage of brain cortical areas far from the basal ganglia. In addition, this provides support to the hypothesis that impairment of sensory pathways may play a role in the origin of some hyperkinetic movement disorders, such as dystonia and athetosis.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
4/20. Evidence for altered basal ganglia and cortical functions in transient idiopathic dystonia.Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a day. Neurologic findings and the psychomotor development were and remained normal. Neurometabolic screening tests and cerebral magnetic resonance imaging showed normal results. Functional cerebral imaging showed decreased perfusion of the basal ganglia and the left temperomesial cortex using single photon emission computed tomography (SPECT with technetium 99m hexamethylpropyleneamine oxime [99mTc-HMPAO]) and decreased glucose metabolism in the basal ganglia and the cerebellum using positron emission tomography (PET with [18F]fluorodeoxyglucose [18FDG]). Follow-up revealed that the episodes disappeared at the age of 16 months. The findings of PET and SPECT give evidence of an alteration in basal ganglia function but also in functions of other central nervous system regions, which may, however, be temporary.- - - - - - - - - - ranking = 0.042364248878256keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/20. TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia.A mutation of the DYT1 gene, which codes for torsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. TorsinA immunohistochemistry was used to examine a case of DYT1, and several cases of non-DYT1, dystonia. No evidence was found for alterations of immunoreactivity at the light microscopic level, specifically neither cytoplasmic aggregations nor colocalization of torsinA immunoreactivity with a marker for endoplasmic reticulum. These findings contrast with results of recent cell culture studies of torsinA.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
6/20. Involvement of the medial pallidum in focal myoclonic dystonia: A clinical and neurophysiological case study.We successfully treated a patient with familial myoclonic dystonia (FMD), which primarily affected his neck muscles, with bilateral deep brain stimulation (DBS) to the medial pallidum, and investigated the role of the medial pallidum in FMD. A patient with FMD underwent bilateral implantation of DBS electrodes during which field potentials (FPs) in the medial pallidum and electromyograms (EMGs) from the affected neck muscles were recorded. The effects of high-frequency DBS to the medial pallidum on the FMD were also assessed by recording EMGs during and immediately after implantation, as well as 6 days and 8 weeks postoperatively. During spontaneous myoclonic episodes, increased FPs oscillating at 4 and 8 Hz were recorded from the medial pallidum; these correlated strongly with phasic EMG activity at the same frequencies in the contralateral affected muscles. The EMG activity was suppressed by stimulating the contralateral medial pallidum at 100 Hz during the operation and continuous bilateral DBS from an implanted stimulator abolished myoclonic activity even more effectively postoperatively. The phasic pallidal activity correlated with and led the myoclonic muscle activity, and the myoclonus was suppressed by bilateral pallidal DBS, suggesting that the medial pallidum was involved in the generation of the myoclonic activity. High-frequency DBS may suppress the myoclonus by desynchronising abnormal pallidal oscillations. This case study has significant clinical implications, because at present, there is no effective treatment for focal myoclonic dystonia.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
7/20. Normal dopamine transporter binding in dopa responsive dystonia.We report the clinical manifestations of dopa responsive dystonia (DRD) in 2 patients from the same family. The brain magnetic resonance images (MRI) were normal. The dopamine transporter (DAT) imaging with (99m)Tc-TRODAT-1 was performed in the 2 probands, 8 patients with young onset parkinson disease (YOPD) and 16 normal controls. The ratios of (99m)Tc-TRODAT-1 brain SPECT in the striatum were 2.40 /- 0.12 (right) and 2.30 /- 0.17 (left) in these 2 DRD patients as compared with 1.38 /- 0.18 (right), 1.41 /- 0.20 (left) in YOPD patients, and 2.15 /- 0.35 (right), 2.14 /- 0.32 (left) in normal controls respectively. A normal DAT uptake was found in DRD suggesting a normal presynaptic nigrostriatal dopaminergic terminal. We conclude that a normal DAT in parkinsonian patients can differentiate DRD from YOPD. In addition, DAT with (99m)Tc-TRODAT-1 is a reliable and convenient tool to study the function of the presynaptic dopaminergic axonal terminals.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/20. Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.The neuropathology of the primary dystonias is not well understood. We examined brains from identical twins with DYT1-negative, dopa-unresponsive dystonia. The twins exhibited mild developmental delays until age 12 years when they began developing rapidly progressive generalized dystonia. Genetic, metabolic, and imaging studies ruled out known causes of dystonia. cognition was subnormal but stable until the last few years. death occurred at ages 21 and 22 years. The brains were macroscopically unremarkable. Microscopic examination showed unusual glial fibrillary acidic protein-immunoreactive astrocytes in multiple regions and iron accumulation in pallidal and nigral neurons. However, the most striking findings were 1) eosinophilic, rod-like cytoplasmic inclusions in neocortical and thalamic neurons that were actin depolymerizing factor/cofilin-immunoreactive but only rarely actin-positive; and 2) abundant eosinophilic spherical structures in the striatum that were strongly actin- and actin depolymerizing factor/cofilin-positive. Electron microscopy suggested that these structures represent degenerating neurons and processes; the accumulating filaments had the same dimensions as actin microfilaments. To our knowledge, aggregation of actin has not been reported previously as the predominant feature in any neurodegenerative disease. Thus, our findings may shed light on a novel neuropathological change associated with dystonia that may represent a new degenerative mechanism involving actin, a ubiquitous constituent of the cytoskeletal system.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/20. Progressive delayed-onset dystonia after cerebral anoxic insult in adults.The basal ganglia, especially the globi pallidi (GP), are highly vulnerable to generalized cerebral anoxia/hypoxia. We report on 2 new cases with delayed-onset generalized dystonia due to cerebral anoxia. The onset of dystonia in both of our patients was delayed by about 2 months. In both cases, the unusual feature was the progressive worsening and the spread of dystonia over many years after delayed onset. dystonia progressed for 16 years in Case 1 and for 4 years in Case 2. Furthermore, initial magnetic resonance imaging (MRI) scan of Case 1 showed mild changes of the internal capsule sparing the basal ganglia. Years later, in line with clinical progression, the follow-up MRI scan showed isolated bilateral lesions involving the entire GP. MRI scans in Case 2 showed bilateral lesions of caudate and lentiform nuclei. There may be several mechanisms underlying delayed and progressive symptoms after time-limited brain anoxia. We hypothesize that anoxia-induced excitotoxicity resulting in mitochondrial dysfunction and subsequent apoptosis may explain, at least partly, the delayed-onset and progressive extrapyramidal syndromes seen in these patients.- - - - - - - - - - ranking = 0.5keywords = brain (Clic here for more details about this article) |
10/20. risperidone-responsive segmental dystonia and pallidal deep brain stimulation.A 67-year-old man with risperidone-responsive segmental dystonia underwent bilateral deep brain stimulation (DBS) of the globus pallidus internus. Prospectively, the authors assessed the Burke-Fahn-Marsden dystonia Rating Scale in medication (M) and stimulation (S) "on"/"off" states. With DBS at 9 months, the score improved by 86% to 8.5 in M-"on"/S-"on" and 12.5 in M-"off"/S-"on." Studies of the effects of DBS and concomitant medication may be warranted in selected patients treated by DBS for dystonia.- - - - - - - - - - ranking = 2.5keywords = brain (Clic here for more details about this article) |
| | Next -> |