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At least 541 records · Page 30Linked to original sources
PubMed1996

Familial paroxysmal dystonic choreoathetosis revisited.

A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a "forme fruste" or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise-induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described "intermediate," exercise-induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the "dystonia gene" in male members. Conversely, exercise-induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.

Adult↗
PubMed1996

Choreoathetosis in acquired immune deficiency syndrome patients with cerebral toxoplasmosis.

The aim of our study was to evaluate both the incidence and the pathologic and clinical features of extrapyramidal disorders in a population of acquired immune deficiency syndrome (AIDS) patients with cerebral toxoplasmosis. Of 240 AIDS patients evaluated in the 1985-1994 period, 50 of them were diagnosed to have cerebral toxoplasmosis on the basis of the following criteria: occurrence of specific antibodies, computed tomography and/or magnetic resonance imaging (MRI), and regression of the symptoms after specific therapy. Three of 50 (6%) had hemichoreoathetosis. In the first case, the disorder began as a dyskinesia of the left hand that subsequently spread to the whole ipsilateral arm and assumed the features of choreic athetotic movements. The other two cases were characterized by left hemisomatic distal choreic movements. Therapy with pyrimethamine and sulfadiazine led to a complete recovery of the extrapyramidal signs in two cases and to improvement in the third. According to our observations, the onset of these movement disorders could not be related to the dimension of the lesion or to the edema, but to a specific localization in subthalamic nucleus, in subthalamic/pallidal, and pallidal/thalamic pathways. MRI seems the elective tool to perform a more accurate study of the anatomic areas involved in this pathway and to verify their integrity. Cerebral toxoplasmosis in AIDS can be considered as a new etiopathogenic cause of choreoathetosis.

AIDS Dementia Complex↗
PubMed1998

Quantitative EEG analysis of depth electrode recordings from several brain regions of mutant hamsters with paroxysmal dystonia discloses frequency changes in the basal ganglia.

Computerized EEG spectral analyses of depth electrode recordings from striatum (caudate/putamen; CPu), globus pallidus (GP), and parietal cortex (pCtx) were performed before and after dystonic attacks in freely moving mutant dt(sz) hamsters with paroxysmal dystonia. In these hamsters, sustained attacks of abnormal movements and postures can be reproducibly induced by stress, such as placing the animals in a new environment. Data recorded from mutant hamsters were compared with recordings from age-matched nondystonic control hamsters. The predominant EEG changes in CPu and GP of dystonic hamsters were significant decreases in the high-frequency beta2 range and there was a tendency to increase in delta and theta activities. These changes were seen both before and after onset of dystonic attacks, indicating a permanent disturbance of neural activities in the basal ganglia of dystonic animals. No such changes were seen in the pCtx. Furthermore, no epileptic or epileptiform activity was seen in any of the recordings, substantiating a previous notion from cortical and hippocampal recordings that paroxysmal dystonia in these mutant hamsters has no epileptogenic basis. The present finding of abnormal synchronization of neural activity in the CPu and GP of dystonic hamsters adds to the belief that the striatopallidal-thalamocortical circuit is the most likely site in which to search for the unknown defect in primary (idiopathic) dystonia. As suggested by this study, quantitative EEG analysis can increase the likelihood of detecting subtle EEG abnormalities in different types of idiopathic dystonia and thereby improves our understanding of the pathogenetic mechanisms of this movement disorder.

Animals↗
PubMed1996

A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.

Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction theta = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.

Athetosis↗
PubMed1991

Does the absence of clinical expression of choreoathetosis, despite severe striatal atrophy, correlate with plasticity of neuropeptide synthesis?

Neuropeptide and neurotransmitter plasticity has been demonstrated in the central nervous system. Modifications of their synthesis occur following receptor blockade or deafferentiation by surgical lesions. This concept should provid answers to some remaining open questions in human pathology especially in degenerative diseases of the basal ganglia. In a severely atrophied striatum we observed a selective increase in the number of detectable striatal substance P and met-enkephalin neurones which exhibited a striking increase in the intensity of labelling. This increase, instead of the well established reduction of substance P and enkephalins in the atrophied striatum of Huntington's disease, could explain the absence of choreoathetosis which was replaced by rigidity and bradykinesia in the patient. The absence of choreoathetosis, despite severe striatal atrophy, is described in several basal ganglia diseases and could also be related to neurotransmitter or neuropeptide plasticity rather than due to the primary lesion.

Athetosis↗
PubMed1991

Giant middle cerebral aneurysm presenting as hemiathetosis in a child and its spontaneous thrombosis.

A 10-year-old girl presented with a 6-week history of gradually increasing, abnormal movements and weakness of the right upper and lower limbs. There were no features of raised intracranial pressure. Computed tomography scan and magnetic resonance imaging (MRI) of the brain showed the features of a partially thrombosed giant middle cerebral artery aneurysm, located deep in the left lentiform region and compressing the basal ganglia and the mesencephalon. The angiogram confirmed the aneurysm and its origin from the main trunk of the artery with occlusion of all the branches. A direct approach was unsuitable for the treatment of the aneurysm, so an embolization procedure to occlude the neck of the aneurysm was considered. During the waiting period, the patient improved and became asymptomatic. Follow-up MRI showed complete thrombosis of the aneurysm and eventually, reduction in its size and mass effect. The hemiathetosis may have been the result of direct pressure on the basal ganglia by the aneurysm. The spontaneous intra-aneurysmal thrombosis may have been due to the massive size of the aneurysm and its narrow neck.

Athetosis↗
PubMed1993

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

Detailed clinical and neuropathological findings in two unrelated patients with a chorea-acanthocytosis-like phenotype (CA) are reported. One case met all the diagnostic criteria of CA and had a deceased brother with the same disease. The second case had a virtually identical phenotype to the former but without acanthocytes. These findings suggest that both patients are affected by the same disease and that acanthocytes are not essential to the diagnosis. Neuropathological autopsy studies on the brain of the second case showed selective atrophy of the caudate nucleus that seemed to correspond to the movement disorder and behavioural abnormalities prominent in this patient. In both subjects, morphometric and ultrastructural examination of the peripheral nerve showed loss of myelinated fibres, more accentuated distally, and cytoskeletal changes in the axoplasm. These findings support the hypothesis that peripheral neuropathy in CA is caused by distal axonopathy.

Acanthocytes↗
PubMed1978

Simultaneous recording of pupillary hippus and EEG. Report of a case.

Pupillary hippus was observed and recorded in a man of 44 years, who had epileptic seizures, chronic alcoholism with liver disease and Primidon intoxication, during a period of unconsciousness of 24 h. During this time the simultaneous records of the EEG and pupillogram over a long period of time revealed that the basic EEG rhythm and hippus had the same frequency. Both recordings were temporarily in phase, time-locked, and could be blocked by painful and acoustic stimuli. The etiology and interpretation of hippus are discussed.

Adult↗
PubMed1983

Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type.

Six generations of a family with paroxysmal choreoathetosis of the Mount and Reback type were studied. Neurological investigation and follow-up of the symptoms were possible for four generations, in which 15 members suffered from the disease. The attacks could be provoked by alcohol and intensified by caffeine or emotional excitement. Phenytoin, primidone and carbamazepine had no therapeutic effect. Treatment with L-dopa could provoke the choreoathetosis. Haloperidol was the most effective treatment and valproic acid was also able to reduce drastically the frequency and intensity of the attacks. Three patients with sporadic kinesiogenic, paroxysmal choreoathetosis were also studied, whose choreoathetosis was induced by movement. Treatment with carbamazepine or phenytoin was effective, but haloperidol increased the severity of the choreoathetoid attacks.

Adolescent↗
PubMed1991

The shadow of movement.

Movement is preceded, accompanied and followed by reactions which give to the primary action its correct execution and ensure that the body's axis, together with the limbs, maintains the right balance. If these reactions are interfered with, incoordination of movement, lack of balance, hypertonia or dystonia may all appear. In the case of dystonia, postural mechanisms tend to become dominant and take over from the kinetic component of movement. In the upper limbs, the dystonic posture follows patterns analogous to those used by monkeys for postural purposes. Thus, while the initial mechanisms of movement represent highly sophisticated processes thoroughly adapted to living in an upright state, the reactions that go with the movement are more primitive and probably have a less helpful role.

Animals↗
PubMed1975

[Torpid degeneration of the lateral pallidum with Bielschowsky bodies. Light and electronmicroscopic findings (author's transl)].

In a 60-year man with a very slowly progressive motor disturbance probably of torsion systonic or choreoathetotic type which started in childhood, we found an isolated degeneration of the exterior pallidum with intraneuronal deposition of Bielschowsky bodies and only slight deficit of neurons. The Bielschowsky bodies show the same structure as corpora amylacea and Lafora bodies. They might also be the result of a cellular disturbance mainly concerning the carbohydrate metabolism. In this case they are localised only in the neurons of the exterior part of the pallidum--in contrast to the organogenitically otherwise deriving (from the nucl. entopeduncularis) intact neurons of the pallidum internum--and they induce, after an excessive accumulation of the metabolites, not till extremely late loss of neurons. This circumstance explains the very torpid progress of this disease.

Athetosis↗