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The clinical study of involuntary movements is helped by neurophysiological and neuropharmacological methods which are very useful for defining the different components of complex movements. Two main groups of involuntary movements can be contrasted according to whether or not they display a rhythm. The defect of a neurotransmitter or the hypersensitivity of the receptors are considered for the different types of movements.
Eighty infants with cerebral palsy including monoplegia, diplegia, quadriplegia, hemiplegia, choreoathetosis, hypotonia with mental retardation and cerebellar ataxia, underwent Computed Cranial Tomography (CCT). Specific morphological anomalies such as ventricular dilatation with or without diverticulum, cortical atrophy, low density areas and calcifications, occur with varying frequency in each clinical groups. There exists a good correlation between the pathogenesis of the lesions, clinical data and CCT pictures.
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We report the survival of a 15-year-old girl in whom clinical rabies developed one month after she was bitten by a bat. Treatment included induction of coma while a native immune response matured; rabies vaccine was not administered. The patient was treated with ketamine, midazolam, ribavirin, and amantadine. Probable drug-related toxic effects included hemolysis, pancreatitis, acidosis, and hepatotoxicity. Lumbar puncture after eight days showed an increased level of rabies antibody, and sedation was tapered. Paresis and sensory denervation then resolved. The patient was removed from isolation after 31 days and discharged to her home after 76 days. At nearly five months after her initial hospitalization, she was alert and communicative, but with choreoathetosis, dysarthria, and an unsteady gait.
After exposure to nitrous oxide, an infant with unrecognized cobalamin deficiency developed neurologic deterioration and pancytopenia. Hematologic recovery and partial resolution of his neurologic changes followed repletion of the vitamin. Nitrous oxide depletes bioavailable cobalamin and may be a dangerous anesthetic in patients with cobalamin deficiency.
IMP:pyrophosphate phosphoribosyltransferase (IPPase) (EC 2.4.2.8) has been purified over 7000-fold from human erythrocytes. The purified enzyme moved as a single band on disc electrophoresis. Antisera prepared in rabbits and rats against the purified enzyme precipitated and neutralized the enzyme, but had no effect on AMP-pyrophosphate phosphoribosyltransferase (EC 2.4.2.7) activity. Evidence was found for isozymes (enzyme variants) of IPPase in normal erythrocytes. Erythrocyte lysates of five patients with Lesch-Nyhan disease reacted with antisera against normal IPPase. Lysates from LN erythrocytes blocked the inactivation of normal enzyme by the antibody. LN erythrocytes had about the same concentration of enzyme protein as normal erythrocytes. The genetic defect in LN results in the production of essentially normal amounts of an immunologically identifiable but catalytically incompetent enzyme. Thus LN is apparently the result of a mutation in a structural gene and is not due to deletion of a structural gene or defect in a regulatory gene.
Deficient hypoxanthine-guanine phosphoribosyl transferase (HGPRT; EC 2.4.2.8) enzymes from erythrocytes of patients with hyperuricemia and with the Lesch-Nyhan syndrome migrate 15% faster in polyacrylamide gel disc electrophoresis than the normal enzyme. A half-sister of two males with partial deficiency, who had 34% of normal HGPRT activity in her erythrocytes, yielded profiles containing two distinct zones of activity; one corresponded to the enzyme found in normal individuals and one to the variant of her half-brothers. However, in her profile her variant enzyme showed notably greater activity than that observed in her half-brothers. This increase was due to an activation of the variant by normal enzyme. Electrophoresis of mixtures of normal enzyme with partially deficient enzymes from patients with hyperuricemia and with the Lesch-Nyhan syndrome also led to activation of deficient HGPRT variants by normal enzymes. Deficient variants were also activated by normal enzyme on filtration through Sephadex G-25. Experiments in which deficient variant enzymes were activated with purified normal enzyme labeled with (125)I indicated that deficient enzymes incorporate components of the normal enzyme. No such activation of deficient enzymes was ever obtained when mixtures of deficient and normal enzymes were put together in a test tube.
PURPOSE: To describe a case of quadriceps tendon rupture in a patient with postanoxic choreoathetotic movements. CASE REPORT: A 20-year-old man was admitted to a rehabilitation hospital after anoxic brain injury. As a result of the injury, he developed continuous flowing choreoathetotic movements. He contracted fever and swollen and painful right knee, and only when periarticular edema decreased did a suprapatellar gap appear and quadriceps tendon rupture was diagnosed. CONCLUSIONS: Considering the possibility of tendon rupture when evaluating a patient with non-volitional movements and 'arthritic' presentation in a rehabilitation setting, may prevent delay of quadriceps surgical repair.
Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four-generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region containing a number of genes possibly involved in neuronal signaling, including a potassium channel gene and a neuronal G protein-coupled receptor.
Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic syndromes. Paroxysmal choreoathetosis is an involuntary-movement disorder characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Classification is still elusive, and the epileptic nature of this movement disorder has long been discussed and remains controversial. We have studied four families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The human genome was screened with microsatellite markers regularly spaced, and strong evidence of linkage for the disease gene was obtained in the pericentromeric region of chromosome 16, with a maximum two-point LOD score, for D16S3133, of 6.76 at a recombination fraction of 0. Critical recombinants narrowed the region of interest to a 10-cM interval around the centromere. Our study provides the first genetic evidence for a common basis of convulsive and choreoathetotic disorders and will help in the understanding and classification of paroxysmal neurological syndromes.
Time domain and frequency domain analyses were performed on smoothed and averaged electromyographic (IEMG) activity recorded intramuscularly from 6 muscles of the lips, tongue and jaw during speech in normal and athetoid cerebral palsy subjects. The speech IEMG waveforms in both groups were composed of slowly changing tonic activity merging with more rapidly changing phasic bursts. Significant increases both in the durations and average levels of IEMG activity in the athetoid subjects resulted in a 5- to 30-fold increase in the speech muscle energy expended by these subjects. The peak-to-peak amplitudes of the IEMG activity were significantly increased in the athetoid subjects, commensurate with their increased average levels, thus demonstrating that they could vary their muscle contraction levels over a wide range. The velocities (rates of change) of muscle IEMG activity did not differ significantly between the two groups. The velocity of the IEMG activity increased linearly with its amplitude in both subject groups, but the durations of the IEMG bursts nevertheless were highly variable. The slope of the velocity-amplitude relation in the athetoid subjects was less than half that in the normal subjects, suggesting that the frequency bandwidth of muscle activity was reduced in the athetoid subjects, despite a normal range of IEMG velocities. The frequency analysis confirmed this suggestion. The upper limit of the average frequency spectrum of voluntary muscle activity for speech was 7 Hz in the normal subjects, whereas this limit was 4 Hz in the athetoid subjects. In the normal subjects each muscle had a different frequency spectrum, whereas the spectra for the 6 muscles were remarkably uniform in the athetoid subjects, implying an abnormality in the functional organization of their muscles. The findings of this study showed clearly that the temporospatial patterns of voluntary muscle activity in the athetoid subjects were grossly abnormal. Since this voluntary activity was reproducible across multiple repetitions of the same speech sample, the dysarthria in these speakers may be attributed to abnormal control of voluntary activity, not to involuntary movement. The results support the view that the primary disability in cerebral palsy is a disruption of the physiological mechanisms which subserve the acquisition of motor skills.
Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary dystonic and choreoathetoid movements, typically several hours in duration with no sign of abnormality between attacks. Inheritance is autosomal dominant and the PDC locus has recently been assigned to the distal long arm of chromosome 2 in two families. We describe a six-generation British family with PDC and describe the results of fine genetic mapping and candidate gene linkage analysis. As part of a genome-wide search, linkage to chromosome 2q was confirmed in this family. Positive LOD scores were obtained for six markers on 2q. A LOD score of 5.08 at a recombination fraction of 0.0 was obtained for the marker D2S163. Construction of haplotypes allowed definition of a disease interval of 4 cM between the flanking markers D2S295 and D2S377. Polymorphic tandem repeats within the candidate genes CHRND (delta polypeptide of the nicotinic acetylcholine receptor) and SLC4A3 were examined yielding LOD scores of -7.68 and 6.08, respectively, at a recombination fraction of 0.0. This excludes CHRND as a candidate. Our data confirm the assignment of the locus for PDC to chromosome 2q and provide evidence for locus homogeneity in PDC. We have narrowed the disease interval to 4 cM and our findings provide support for the involvement of the gene for the chloride/bicarbonate exchanger as a candidate gene for PDC.
The development of functional brain asymmetry during childhood is confirmed by changes in cerebral blood flow measured at rest using dynamic single photon emission computed tomography. Between 1 and 3 years of age, the blood flow shows a right hemispheric predominance, mainly due to the activity in the posterior associative area. Asymmetry shifts to the left after 3 years. The subsequent time course of changes appear to follow the emergence of functions localized initially on the right, but later on the left hemisphere (i.e. visuospatial and later language abilities). These findings support the hypothesis that, in man, the right hemisphere develops its functions earlier than the left.
Paroxysmal kinesigenic choreoathetosis (PKC) is a rare paroxysmal movement disorder characterized by recurrent and brief attacks of choreiform or dystonic movements triggered or exacerbated by sudden voluntary movements. Some patients with PKC also have a history of infantile afebrile convulsions. PKC can be sporadic, or familial with autosomal dominant inheritance. PKC has been mapped to the pericentromeric region of human chromosome 16 in several Japanese families and in an African-American family, to regions which overlap by 9.8 cM (centiMorgan). Both regions overlap by 3.4 cM with a region containing a gene responsible for 'infantile convulsions and paroxysmal choreoathetosis' (ICCA). We have identified a second PKC locus (EKD2) on the long arm of chromosome 16 in a large Indian family with PKC. A maximum two-point LOD score of 3.66 (recombination fraction = 0.00, penetrance = 0.80) was obtained between PKC and D16S419. Haplotype and recombinant analysis localized EKD2 to a 15.8 cM region between D16S685 and D16S503. This region does not overlap with that identified in Japanese families, or with the ICCA locus. These results exclude one locus on chromosome 16 which causes both the ICCA and PKC syndromes; this suggests that there may be a cluster of genes on human chromosome 16 which lead to paroxysmal disorders.
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