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At least 865 records · Page 48Linked to original sources
PubMed1986

Choreoathetosis as toxic effect of lithium treatment.

Two cases of lithium neurotoxic effects are reported. Both cases are expressed by choreoathetotic movements and in both of them intoxication was caused by combined drug therapy. In our opinion caution is advised when lithium is administered in combination with drugs, especially in elderly patients.

Aged↗
PubMed1986

Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature.

A 24-year-old man presented with dystonia, dementia, amyotrophy, choreoathetosis, and ataxia. Partial hexosaminidase A deficiency was documented in serum and leukocytes and confirmed by rectal biopsy with ganglion cells containing membranous cytoplasmic bodies. A brief review of the literature reveals that tremor, dystonia and choreoathetosis are common but neglected symptoms associated with chronic GM2 gangliosidosis.

Adult↗
PubMed1987

Late-onset progressive radiculomyelopathy in patients with cervical athetoid-dystonic cerebral palsy.

Three patients with severe athetoid-dystonic type of cerebral palsy involving the neck musculature developed in their fourth to fifth decade progressive cervical radiculomyelopathy associated with vertebral spondylarthrotic compressive lesions in addition to their long-standing neurological syndrome. It is likely that the late-onset myelopathy is linked to continuous torsion, compression and 'wear and tear' of the cervical spinal cord, induced by the involuntary movements. In 2 patients decompressive cervical spinal surgery was ineffective, suggesting irreversible damage.

Adult↗
PubMed1992

Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.

Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.

Adolescent↗
PubMed1992

Dystonic attacks related to sleep and exercise.

Two unrelated children displayed attacks of paroxysmal jerky 'puppet-like' movements lasting 2-3 min. The attacks were not kinesigenic and occurred during wakefulness precipitated by physical exercise and during NREM sleep, spontaneous or upon arousal and awakenings. Paroxysmal dystonic choreoathetosis was excluded by the absent family history, and paroxysmal kinesigenic dystonia by the absence of triggering effects by sudden movements and efficacy of anticonvulsants. Pattern and duration of involuntary movements were not those typical of nocturnal paroxysmal dystonia. Our cases emphasize that overlap exists among the different clinical categories of paroxysmal dyskinesia.

Arousal↗
PubMed1996

Paroxysmal choreoathetosis.

Paroxysmal choreoathetosis is the essential symptomatology in the following 4 syndromes: (a) paroxysmal kinesogenic choreoathetosis; (b) paroxysmal nonkinesogenic choreoathetosis; (c) supplementary sensorimotor seizures, and (d) paroxysmal nocturnal dystonia. All these syndromes are characterized by similar clinical symptomatology of the paroxysmal events. However, the pathophysiology of the choreoathetotic episodes differs considerably. In the first two syndromes the paroxysms are most probably generated by nonepileptogenic abnormal discharges in the basal ganglia whereas in the third syndrome (supplementary sensorimotor seizures) there is convincing evidence indicating that the pathogenesis is an epileptic process in the cortex. Finally, in the last syndrome (paroxysmal nocturnal dystonia) there is still controversy whether the paroxysms are of an epileptic or nonepileptic nature.

Athetosis↗
PubMed1970

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.

Certain gouty subjects with excessive de novo purine synthesis are deficient in hypoxanthineguanine phosphoribosyltransferase (HG-PRTase [EC 2.4.2.8]). The mechanism of accelerated uric acid formation in these patients was explored by measuring the incorporation of glycine-(14)C into various urinary purine bases of normal and enzyme-deficient subjects during treatment with the xanthine oxidase inhibitor, allopurinol. In the presence of normal HG-PRTase activity, allopurinol reduced purine biosynthesis as demonstrated by diminished excretion of total urinary purine or by reduction of glycine-(14)C incorporation into hypoxanthine, xanthine, and uric acid to less than one-half of control values. A boy with the Lesch-Nyhan syndrome was resistant to this effect of allopurinol while a patient with 12.5% of normal enzyme activity had an equivocal response. Three patients with normal HG-PRTase activity had a mean molar ratio of hypoxanthine to xanthine in the urine of 0.28, whereas two subjects who were deficient in HG-PRTase had reversal of this ratio (1.01 and 1.04). The patterns of (14)C-labeling observed in HG-PRTase deficiency reflected the role of hypoxanthine as precursor of xanthine. The data indicate that excessive uric acid in HG-PRTase deficiency is derived from hypoxanthine which is insufficiently reutilized and, as a consequence thereof, catabolized inordinately to uric acid. The data provide evidence for cyclic interconversion of adenine and hypoxanthine derivatives. Cleavage of inosinic acid to hypoxanthine via inosine does not contribute significantly to the formation of uric acid in either normal man or in patients with HG-PRTase deficiency.HG-PRTase was not completely absent in red blood cells from a boy with the Lesch-Nyhan syndrome; with hypoxanthine as substrate, the activity in erythrocyte hemolysates was 0.64% of normal values.

Adult↗