1/104. 3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.3-Methylglutaconic (3-MGC) aciduria with 3-methylglutaconyl-CoA hydratase deficiency (3-MGC aciduria type I) is a rare inherited metabolic disease of L-leucine catabolism. We describe a 9-month-old Japanese boy with this disorder who showed progressive neurological impairments presented as quadriplegia, athetoid movements and severe psychomotor retardation from 4 months of age. This finding indicates the existence of clinical heterogeneity in 3-MGC aciduria type I, suggesting it may present as a neurometabolic disease.- - - - - - - - - - ranking = 1keywords = movement (Clic here for more details about this article) |
2/104. acetazolamide relieves concurrent episodic movement disorders encountered in Southern states.patients with episodic or paroxysmal movements or postures often are thought to have hysteric or psychosomatic illnesses. Kinesigenic (movement-induced) posturing similarly is usually misinterpreted. This case is notable because of the presence of symptoms of two distinct diseases with similar symptoms and changes from one dystonic posture to another during three different durations of attack. The condition improved with acetazolamide therapy. The effect of acetazolamide on sodium and potassium ionophores is discussed because of new genetic information about these illnesses.- - - - - - - - - - ranking = 75.588419158125keywords = movement disorder, movement (Clic here for more details about this article) |
3/104. Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q.BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is a rare familial movement disorder that has been mapped to chromosome 2q31-36. OBJECTIVE: To study the first Japanese family with PDC clinically and genetically. patients AND methods: We studied a large Japanese family in which at least 17 members in 6 generations have been affected by PDC. We interviewed and examined 26 family members, 8 of whom revealed choreoathetosis-like and dystonialike involuntary movement and 1 of whom revealed no involuntary movement but only muscle stiffness such as the aura of paroxysmal dystonic choreoathetosis (PDC). genetic linkage studies of this family were carried out with polymorphic dna markers. RESULTS: The attacks of involuntary movement or muscle stiffness were precipitated by ovulation, menstruation, emotional stress, or caffeine or alcohol ingestion. magnetic resonance imaging of the brain revealed no abnormalities. clonazepam therapy was effective for reducing the attacks, and ingestion of garlic was believed by patients to be effective for softening the attacks. An affected woman with only muscle stiffness showed remission after hysterectomy for hysteromyoma. This woman also had the disease haplotype and transferred it to her typical PDC-affected daughter. Maximal pairwise logarithm of odds scores exceeding 2.00 were obtained at D2S2250, D2S1242, D2S377, D2S2148, and D2S126. The PDC gene was demonstrated by linkage analyses to be located in a 15.3-centimorgan interval lying between D2S371 and D2S339 based on pairwise and multipoint logarithm of odds scores and obligate recombination events in affected individuals. CONCLUSIONS: Linkage of PDC to chromosome 2q32-36 was confirmed in a Japanese family. The clinical characterizations of this family with PDC include that ovulation seems also to be a precipitating factor of the attacks and that hysterectomy seems to be effective for softening the attacks. Although low-dose clonazepam treatment was most effective, garlic use was believed by affected members to be effective for softening the attacks. Furthermore, based on the results of clinical and genetic analyses, we suggest that muscle stiffness without involuntary movement may represent a forme fruste of PDC.- - - - - - - - - - ranking = 22.397104789531keywords = movement disorder, movement (Clic here for more details about this article) |
4/104. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.PURPOSE: We report a pedigree of familial paroxysmal kinesigenic choreoathetosis (PKC) in which five of 18 members are affected. The pathophysiologic basis for PKC is still uncertain; reflex epilepsy versus dysfunction of basal ganglia. We examined (a) whether there were ictal discharges during the attacks, and (b) a linkage between PKC and possible dna markers linked to several familial epileptic or movement disorders. methods: Video-monitoring EEG was performed in two patients with PKC during attacks elicited by movements of the lower extremities. blood samples for dna studies were obtained from 15 members of the pedigree. Fourteen polymorphic markers on chromosomes 1p, 2q, 6p, 10q, and 20q were genotyped, and two-point lod scores were calculated for each marker under a dominant model. RESULTS: No ictal discharges were found during the attacks in both patients. We could not obtain significant linkage of PKC with any marker examined. CONCLUSIONS: The video-monitoring EEG findings in our cases strongly suggested that the etiology of PKC should be considered distinct from that of reflex epilepsy. However, the patients in this pedigree had experienced generalized convulsions in their infancies; thus we could not deny the possibility of an epileptogenic basis for PKC. There was no strong evidence for a linkage of the gene for PKC with the candidate regions on 1p, 2q, 6p, 10q, or 20q.- - - - - - - - - - ranking = 19.397104789531keywords = movement disorder, movement (Clic here for more details about this article) |
5/104. Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements.We reported a 10-year-old male with vacuolating leukoencephalopathy with subcortical cysts, who presented athetotic movements in the late stage. Magnetic resonance imaging demonstrated diffuse cerebellar white matter lesions, in addition to typical cerebral white matter abnormalities and characteristic subcortical cysts in the anterotemporal and parietal areas. Fluid-attenuated inversion recovery images are highly sensitive for the detection of subcortical cysts, which is essential for a diagnosis. This is most likely to be a severe form of vacuolating leukoencephalopathy with subcortical cysts, presenting with athetotic movements in the late stage.- - - - - - - - - - ranking = 6keywords = movement (Clic here for more details about this article) |
6/104. Syringomyelic dystonia and athetosis.Two patients with movement disorders associated with syringomyelia are described, one of whom developed unusual torticollis, and the other had choreoathetoid-dystonic movements of the hand and arm. In each case, the movements resolved with decompression of the syrinx. The literature is reviewed and possible mechanisms explored.- - - - - - - - - - ranking = 20.397104789531keywords = movement disorder, movement (Clic here for more details about this article) |
7/104. Ceasing of movement-disorder attacks immediately after the onset of pregnancy: possible effect of human chorionic gonadotropin.In a woman with paroxysmal kinesiogenic choreoathetosis, attacks ceased within a few days after conception. An effect of human chorionic gonadotrophin is assumed, since this hormone decreased sodium currents and excessive action potential generation in an experimental approach.- - - - - - - - - - ranking = 4keywords = movement (Clic here for more details about this article) |
8/104. Pseudochoreoathetosis in four patients with hypesthetic ataxic hemiparesis in a thalamic lesion.Thalamic lesions give rise to a variety of clinical syndromes including choreoathetotic movements and ataxic hemiparesis as well as sensory deficits. We describe four patients exhibiting pseudochoreoathetosis, hypesthesia, and ataxic hemiparesis in the limbs contralateral to a thalamic lesion. Three of the four patients showed the involuntary movements within 10 days of stroke onset; the remaining patient was not seen until 4 years later. Three had infarction and the other one hemorrhage in the posterior and lateral thalamus. All the patients had both cerebellar and sensory ataxia. These cases suggest that failure to convey proprioceptive information be the basic pathophysiology of pseudochoreoathetosis.- - - - - - - - - - ranking = 2keywords = movement (Clic here for more details about this article) |
9/104. Chronic cerebellar stimulation in cerebral palsy.Data are presented for the first 50 patients with cerebral palsy who underwent chronic cerebellar stimulation for symptom alleviation. We observed significant shorter and longer term improvement in spasticity as well as athetosis, speech, and functional status. Continuing increments in improvement were noted as a function of time on stimulation. In many instances, psychometric test scores and behavior also were improved. There was one death in this series. There were no neurologic complications due to cerebellar stimulation. The results of this study warrant the judicious use of cerebellar stimulation for symptomatic and functional relief in cerebral palsy.- - - - - - - - - - ranking = 0.00045791611026018keywords = status (Clic here for more details about this article) |
10/104. Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family.Paroxysmal dystonic choreoathetosis (PDC) is an unusual hyperkinetic movement disorder characterized by attacks of chorea, dystonia, and ballism with onset in childhood. We report a large British family with dominantly inherited PDC linked to chromosome 2q and describe the clinical features in 20 affected family members. Attacks were precipitated by a variety of factors, including caffeine, alcohol, or emotion, and could be relieved by short periods of sleep in most subjects. The clinical features in the family are compared with those of 11 other PDC families in the literature and a core phenotype for PDC suggested. CSF monoamine metabolites measured at baseline and during an attack in one subject were found to increase during the attack. magnetic resonance spectroscopy of brain and basal ganglia performed both during and between attacks was normal. Positron emission tomography using the D2 receptor ligand, 11C-raclopride, showed no abnormalities.- - - - - - - - - - ranking = 18.397104789531keywords = movement disorder, movement (Clic here for more details about this article) |
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