Cases reported "Dystonia"

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1/40. trihexyphenidyl in posthemorrhagic dystonia: motor and language effects.

    trihexyphenidyl has been found to be an effective treatment for dystonic movement disorders, improving gross motor function in patients with axial and torsional dystonia, tremors, and myoclonus. In this report, improvements in fine motor control, language, and oral motor skills are described with trihexyphenidyl in an 8-year-old female who developed dystonia after spontaneous bilateral putamenal hemorrhages. No adverse side effects occurred. The mechanism of action of trihexyphenidyl is believed to be in the basal ganglia where it inhibits muscarinic cholinergic receptors and increases the turnover of dopamine.
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keywords = putamen
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2/40. Cerebral arteriovenous malformations and movement disorders.

    A series of six patients with movement disorders associated with cerebral arteriovenous malformations (AVM) is reported. The AVMs were classified according to the Spetzler-Martin classification as grade V (one patient), grade IV (four patients), and as grade III (one patient). One patient had action-induced hemidystonia caused by a contralateral frontoparietal AVM which compressed the putamen and was supplied partially by enlarged lenticulostriate arteries. Two patients presented with unilateral cortical tremor associated with contralateral high-frontal cortical/subcortical AVMs sparing the basal ganglia. Another patient developed hemidystonia and hemichorea-hemiballism after bleeding of a contralateral temporooccipital AVM and subsequent ischemia. Two patients had focal dystonia after thalamic and basal ganglia hemorrhage from AVMs. Five patients were operated on. The movement disorder was abolished in one patient postoperatively. Different mechanisms were identified that are relevant for the development of AVM-related movement disorders: mass effect, diaschisis, local parenchymal altered cerebral blood flow, and hemorrhagic or ischemic structural lesions.
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3/40. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia.

    OBJECTIVE: To determine the mechanism leading to striatal dopamine (DA) loss in dopa-responsive dystonia (DRD). BACKGROUND: Although mutations in the gene GCH1, coding for the tetrahydrobiopterin (BH4) biosynthetic enzyme guanosine triphosphate-cyclohydrolase I, have been identified in some patients with DRD, the actual status of brain BH4 (the cofactor for tyrosine hydroxylase [TH]) is unknown. methods: The authors sequenced GCH1 and measured levels of total biopterin (BP) and total neopterin (NP), TH, and dopa decarboxylase (DDC) proteins, and the DA and vesicular monoamine transporters (DAT, VMAT2) in autopsied brain of two patients with typical DRD. RESULTS: Patient 1 had two GCH1 mutations but Patient 2 had no mutation in the coding region of this gene. Striatal BP levels were markedly reduced (<20% of control subjects) in both patients and were also low in two conditions characterized by degeneration of nigrostriatal DA neurons (PD and 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine treated primate), whereas brain NP concentrations were selectively decreased (<45%) in the DRD patients. In the putamen, both DRD patients had severely reduced (<3%) TH protein levels but had normal concentrations of DDC protein, DAT, and VMAT2. CONCLUSIONS: The data suggest that 1) brain BH4 is decreased substantially in dopa-responsive dystonia, 2) dopa-responsive dystonia can be distinguished from degenerative nigrostriatal dopamine deficiency disorders by the presence of reduced brain neopterin, and 3) the striatal dopamine reduction in dopa-responsive dystonia is caused by decreased TH activity due to low cofactor concentration and to actual loss of TH protein. This reduction of TH protein, which might be explained by reduced enzyme stability/expression consequent to congenital BH4 deficiency, can be expected to limit the efficacy of acute BH4 administration on dopamine biosynthesis in dopa-responsive dystonia.
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keywords = putamen
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4/40. Putaminal necrosis presenting with hemidystonia.

    A 7-year-old female presented with putaminal necrosis associated with hemidystonia. Cranial magnetic resonance imaging revealed bilateral putaminal lesions appearing as hypointense signals on T(1)-weighted images and hyperintense signals on T(2)-weighted images. After a differential diagnosis of basal ganglial degeneration was made, putaminal necrosis was diagnosed. Low doses of levodopa (0.5 mg/kg daily) were administered, but her clinical signs worsened. Positron emission tomography scanning with [(18)F]-6-fluoro-L-dopa revealed asymmetric uptake and right-sided dominant decreases of [(18)F]-6-fluoro-L-dopa uptake of the putamen. On the basis of these findings, standard doses of levodopa (10 mg/kg daily) were administered, and her clinical signs improved. These results suggest that hemidystonia is associated with a disturbance of the dopamine system.
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keywords = putamen
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5/40. Possible mechanisms in infants for selective basal ganglia damage from asphyxia, kernicterus, or mitochondrial encephalopathies.

    magnetic resonance imaging and neuropathologic studies have demonstrated remarkably selective patterns of injury to subregions of the basal ganglia in children. Examples are kernicterus and certain mitochondrial encephalopathies, which cause selective injury to the globus pallidus, and near-total perinatal asphyxia, which causes lesions in the putamen and thalamus. To explain the differential vulnerability of nuclei within millimeters of each other, we hypothesize that their locations within the neurotransmitter-specific circuitry of the basal ganglia motor loop are important. In severe hypoxic-ischemic encephalopathy, excitatory glutamatergic pathways into the putamen and thalamus are overactive, but the globus pallidus might be protected because its activity is silenced by inhibitory neuronal activity. In contrast, the relatively high resting neuronal activity in the globus pallidus might make it more vulnerable to less intense, subacute oxidative stresses from mitochondrial toxins such as bilirubin or from genetic mitochondrial disorders. This hypothesis has implications for designing neuroprotective therapies and for treating associated chronic movement disorders.
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keywords = putamen
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6/40. Hemidystonia and hemichoreoathetosis as an initial manifestation of moyamoya disease.

    OBJECTIVE: To describe hemidystonia and hemichoreoathetosis in an adult patient with moyamoya disease without a previous history of cerebrovascular accident. DESIGN: Case report. SETTING: Tertiary care center. PATIENT: A 22-year-old woman suddenly developed dystonic spasms in her left hand and left foot after a severe emotional stress. The dyskinesia gradually subsided over the next 4 months. Five months after the onset, she suddenly developed choreoathetoid movement in her right hand and right foot. MAIN OUTCOME AND RESULTS: The patient had both somatic and cortical sensory deficits in the right hand and right foot. magnetic resonance imaging of the brain showed an infarction at the right putamen and lesions involving the right frontal lobe and the left frontotemporoparietal lobe. Magnetic resonance cerebral angiography showed severe stenoses of both internal carotid arteries at the supraclinoid portion and numerous collateral vessels, compatible with moyamoya disease. Single photon emission tomography of the brain showed hypoperfused areas at the right frontal and left frontotemporoparietal lobes. The choreoathetosis of the right limbs improved markedly, along with improvement of sensory deficits. CONCLUSIONS: To our knowledge, this is the first report of an adult patient presenting with hemidystonia and hemichoreoathetosis as the initial manifestations of moyamoya disease. Arch Neurol. 2000;57:1510-1512
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7/40. brain biopterin and tyrosine hydroxylase in asymptomatic dopa-responsive dystonia.

    It is assumed that brain biopterin and dopamine loss should not be as severe in asymptomatic dopa-responsive dystonia caused by GCH1 mutations as it is in symptomatic dopa-responsive dystonia. However, the actual status of dopaminergic systems in asymptomatic cases is unknown. In the autopsied putamen of an asymptomatic GCH1 mutation carrier, we found that brain biopterin loss (-82%) paralleled that reported in dopa-responsive dystonia patients (-84%). However, tyrosine hydroxylase protein and dopamine levels (-52 and -44%, respectively) were not as severely affected as in symptomatic patients (exceeding -97 and -88%, respectively). Our data suggest that the extent of striatal tyrosine hydroxylase protein loss may be critical in determining dopa-responsive dystonia symptomatology.
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keywords = putamen
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8/40. Focal myoclonus-dystonia of the leg secondary to a lesion of the posterolateral putamen: clinical and neurophysiological features.

    We report on a patient with spontaneous and stimulus-sensitive myoclonic jerks and dystonia of the right leg that had been present since infancy. magnetic resonance imaging showed a linear area of gliosis confined to the left posterolateral putamen. This is the first report of focal myoclonus-dystonia of the lower limb secondary to a putaminal lesion.
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keywords = putamen
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9/40. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia.

    We describe three brothers with type 3 GM1 gangliosidosis presenting as dystonia. The ages of the patients when examined were 28, 31, and 33. They had developed dysarthria with facial grimacing since early childhood. The common neurological sign was generalized dystonia. Both dystonic postures and dystonic movements resulting from varying degrees of fixed rigidity of each muscle involved did not disappear when the patients were lying or sitting relaxed. There was no correlation between the severity of dystonia and the residual activities of acid beta-galactosidase. magnetic resonance imaging (MRI) showed bilaterally symmetric high intensity lesions only in the putamen on T2-weighted and proton density images. Selective putaminal changes on MRI may be the lesions most responsible for symptomatic dystonia in this disorder.
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keywords = putamen
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10/40. Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings.

    Neuropathological findings in a 59-year-old male case of hereditary spastic dystonia with Leber's hereditary optic atrophy included: marked depletion of myelinated nerve fibres in the posterior funiculi, corticopontine tracts and striatum; practically complete neuronal depletion in the putamen and lateral part of the caudate, and mild cell loss in the substantia nigra. The putamina had changed into a spongy fibrillary scar, the pallidal fibres and laminae were practically all degenerated. Moreover, there was generalised mild fibre degeneration of the white matter. The optic nerve showed marked, predominantly central, loss of nerve fibres with demyelination.
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keywords = putamen
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