1/171. 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. ( info) |
2/171. 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. ( info) |
3/171. A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia. We report a family with an incompletely atonic variant of paroxysmal kinesigenic choreoathetosis (PKC). Three members of the family experienced attacks of muscle weakness which resembled the choreoathetotic attacks that occur in PKC in terms of their kinesigenicity and duration, clarity of consciousness during the attacks, good therapeutic response to low doses of phenytoin, and familial transmission, but differed from choreoathetotic attacks in PKC in that they were atonic. All three affected individuals were hypercalcitoninemic. ( info) |
4/171. Paroxysmal kinesigenic choreoathetosis associated with frontotemporal arachnoid cyst--case report. A 17-year-old male presented with paroxysmal kinesigenic choreoathetosis (PKC) associated with frontotemporal arachnoid cyst. xenon-133 single photon emission computed tomography detected a slight but equivocal decrease in regional cerebral blood flow in the vicinity of basal ganglia associated with the PKC episodes. PKC continued after surgical removal of the cyst but was well controlled by oral administration of carbamazepine. Whether the pathogenesis of symptomatic PKC was associated with the cortical lesion could not be determined in the present case. ( info) |
5/171. 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. ( info) |
6/171. 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. ( info) |
7/171. 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. ( info) |
| 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. ( info) |
9/171. 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. ( info) |
10/171. Subacute sensory neuropathy associated with Epstein-Barr virus. A 35-year-old man experienced severe sensory loss, pseudoathetosis, and areflexia during recovery from a severe viral illness. Sensory nerve action potentials were absent, motor conduction velocities were mildly slowed, and blink reflexes were normal. magnetic resonance imaging (MRI) revealed abnormal signal within the central and dorsal aspects of the thoracic cord. Acute and convalescent Epstein-Barr virus (EBV) titers suggested EBV as the etiology. Subacute sensory neuropathy, with peripheral and central nervous system involvement, is a rare complication of EBV infection. ( info) |