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A 6-year-old girl with pachygyria was presented. Regions of pachygiria were seen in the frontal, temporal, and parietal areas in vivo by magnetic resonance imaging. She showed athetosis, mental retardation, deafness, short stature, and microcephalus, but did not show epilepsy. A combination of these symptoms may be a new clinical entity, caused by undetermined prenatal events.

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.

Miranda's family members are most supportive of the goal for her to have a powered wheelchair and encourage her when they visit. Motivation has been the key to Miranda's success at learning to operate switches in order to explore and learn from her environment. As long as the outcome available from operation of a switch is desirable for Miranda, she works hard at controlling her movements so as to activate it. Conversely, if the ultimate advantage of operating the switch is unclear to her, she is unwilling to make the effort. The occupational therapist's role is crucial, in that she realizes the importance of motivation and consequently designs activities and rewards that are important and meaningful for Miranda. Miranda's life has been considerably enriched by the introduction of mechanical aids into her leisure sphere. She has become more interested in her surroundings and is excited about exploring possibilities for future rewarding activities, such as academics. A notable additional benefit has been that Miranda now displays a more assertive attitude on her own behalf.

Frequently instability and premature onset of spondylosis of the cervical spine are found in athetoid cerebral palsy (CP) patients. These structural abnormalities appear to be related to athetoid motion of the neck in CP. Through motion analysis, the authors aimed to clarify the abnormalities of cervical motion that could precipitate structural abnormalities. The gross characteristic feature of cervical motion in athetoid CP is "whip movement." Both velocity and acceleration during extension-flexion motion were greater than in normal subjects, especially at the upper cervical levels. Also, a sudden increase in velocity and acceleration occurred during rapid motions at certain levels, followed by a larger range of motion of the cervical spine. Such kinematic abnormalities were thought to generate a greater shearing force and bending moment exerted on the corresponding cervical articulations-discs and facets. Olisthetic instability often accompanied disc degeneration at the upper cervical levels. A large range of extension--flexion motion of the cervical spine, analogous to a cantilever, caused a repeated bending moment of extraordinary magnitude and was regarded as a precipitative factor for disc degeneration and osteophytosis common at the middle and lower levels of the disc.

A 15-year-old boy was admitted at age 10 because of muscle weakness, choreatic involuntary movements, and a profound hypotonia. He was diagnosed as having chorea mollis, a rare variant of Sydenham's chorea. He made a full recovery and received prophylaxis with monthly injections of benzathinebenzyl penicillin for the next 5 years. Six months after discontinuation of the prophylaxis he had a recurrence. The choreatic movements were successfully treated with haloperidol. However, a hypotonia and mild psychiatric symptoms still persist one year later. The clinical course, observed in our patient, is in concordance with the results of recent studies, reporting, that a number of patients with Sydenham's chorea may be left with mild to moderate neurologic and psychiatric sequelae.

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.

The clinical course of two boys with familial paroxysmal choreoathetosis was traced. As far as the medical history could be retrieved, their family has been affected by this disease for three generations. Except for this disorder, the patients' development and psychophysical state are unremarkable. Both boys responded well but at times incompletely to anticonvulsants. Therefore L-Dopa was introduced to the therapeutic regime of the younger, more severely affected boy. L-Dopa caused an appreciable decline of the frequency of the paroxysms.

This report presents cinefluorographic data on the articulation of isolated vowels, VCV nonsense utterances, and short sentences by five subjects with athetoid cerebral palsy. Articulatory abnormalities were identified from tracings of vocal tract shapes and from displacement-by-time plots of articulatory events. The most frequent abnormalities were large ranges of jaw movement, inappropriate positioning of the tongue for various phonetic segments (especially because of a reduced range of tongue movement in the anteroposterior dimension), intermittency of velopharyngeal closure caused by an instability of velar elevation, prolonged transition times for articulatory movements, and retrusion of the lower lip. The speech disorder associated with athetosis is considered with respect to a model of motor learning.

The dentitions of 146 children with cerebral palsy showed a high incidence of gnathic anomalies. There was, however, no relation between these anomalies and the severity of the neuropathological findings. Also the total number of anomalies was almost evenly distributed among the various clinical pictures such as spasticity, athetosis, ataxia. Although combinations of the individual anomalies were found most frequently, marked protrusions of the upper jaw were particularly impressive with 55%, and were followed by class II malformations (47%). In addition, almost every third tested child had an open bite.

Paroxysmal choreoathetosis is a rare, involuntary movement disorder. Attacks occur spontaneously or may be induced by movement, startle, or anxiety. The movements are tonic, dystonic, or choreoathetotic. Sporadic and, more commonly, familial cases have been reported. Onset occurs most often during childhood, and the course is nonprogressive. Response to anticonvulsant therapy is usually excellent. Five cases of the sporadic form of paroxysmal choreoathetosis are reported. Three of the five patients had attacks after initiation of movements such as rising from a chair. Results of physical examination were normal in four patients. One child had mild hemiatrophy and unilateral hyper-reflexia. Results of laboratory studies, including determinations of serum calcium and ceruloplasmin levels, EEGs and CAT scans of the head, were normal. The attacks ceased in all patients after treatment with either phenytoin or carbamazepine.

The present study attempted to investigate the relationship between judged speech proficiency of cerebral palsied speakers and the following quantitative speech parameters: 1) the number of articulatory errors; 2) the intelligibility of the speech of the cerebral palsied; 3) mean vocal fundamental frequency; 4) variation of vocal fundamental frequency; 5) mean speech-sound pressure level; 6) variation of speech-sound pressure level; 7) word-per-minute speech rate. Secondarily, the study investigated the differences in the speech of the spastic and athetoid populations in terms of the parameters listed above.

The acute onset of symptoms of severe cervical radiculo-myelopathy in four patients with athetoid-dystonic cerebral palsy is reported. Neurological and radiological examination showed that the spondylotic changes of the cervical spine were responsible for new neurological deficits leading to the patients being bedridden. Dystonic-athetoid neck movements may cause excessive axial neck rotation as well as flexion and extension movements of the spine. These repetitive exaggerated movements may result in early degenerative changes of the vertebrae which may enhance the radiculo-myelopathy. The four patients were treated with an anterior discectomy with interbody fusion. They were bedridden pre-operatively but all have since been able to walk with or without a cane. It is concluded that early anterior decompression with interbody fusion is a treatment of choice for cervical spondylotic radiculo-myelopathy in association with athetoid cerebral palsy.

The characteristic neuropathological features of subacute necrotizing encephalomyelopathy (Leigh), their histology and distribution are described. Clinical findings are unspecific. Impairment of feeding. vomitus, respiratory abnormality, retardation of psychomotor development, familial incidence and onset in early childhood are prominent symptoms. Atactic and athetoid movements, optic atrophy, oculomotor abnormalities are observed in most cases. An enzyme inhibitor excreted in the urine seems to be related to an inborn error of thiamine dependent metabolism in brain tissue. Treatment with thiamine derivatives may have a beneficial effect on the clinical course.

Extrapyramidal symptoms are extremely rare in multiple sclerosis. We examined a patient with a ten year history of multiple sclerosis, who developed choreoathetoid movements of both upper extremities. To our knowledge this is the second case report of this association.

Nearly 25% of patients with severe spastic cerebral palsy (CP) develop hip dislocations/subluxations which may become painful. Three patients with spastic CP and painful hip dislocations/subluxations, who were poor surgical candidates and were unresponsive to conservative medical management, underwent obturator nerve block which resulted in temporary relief of pain and improved their activities of daily living. There were no known complications from this procedure.

Two children with clinical pictures of paroxysmal kinesinogenic choreoathetosis and paroxysmal dystonic choreoathetosis are described and compared with previous reports with regard to diagnostic procedures, therapeutic approach and prognosis. A third case, characterized by paroxysmal dyskinesia induced by exercise and associated with choreiform nonprogressive signs, is also described. Such an association has not been reported previously. This unusual clinical picture indicates the possibility of intermediate forms in the paroxysmal choreoathetosis group and suggests a relationship between paroxysmal motor disorders and benign familial chorea with early onset.

Disorders of movement after hemiplegia have been described for more than a century, but their pathological anatomy and physiology have remained poorly understood because of ambiguous terminology and incomplete studies. We examined the brains of 5 patients which had been serially sectioned where there had been well documented pure motor hemiplegia acquired in childhood. In 4 patients handicapped by hemiathetosis the main lesion was partial destruction of the caudate nucleus and putamen. In the fifth case, where non-disabling involuntary movements only appeared in later life, there was gliosis of the caudate nucleus and thalamus. Striatal lesions produce involuntary movement disorders if the corticospinal and other major motor tracts are partly intact. We propose that degeneration of the thalamic nuclei receiving striatal efferents (ventralis anterior, ventralis lateralis and centrum medianum), wheter primary or secondary, appears to remove an essential modulating influence on the corticospinal system which can only become manifest if this system is relatively preserved.

In 9 controls and in 10 athetosic subjects, authors performed a pneumotachographic registering of ventilation under rest conditions for each phase and determined : the phase duration, the delay between the onset of the phase and the moment where the maximal output occurs, the output reached at the first 1/10th of second after phase change. These determinations were performed in 189 cycles in the controls and in 257 cycles in the athetosic subjects. For each cycle, ventilation and frequency reported to one minute were reckoned, and the relation was established between the duration of expiration and inspiration and between the time necessary for the output to reach its maximal level and the phase duration. The hereafter mentioned facts were noted : in the athetosic subjects there exists a tachypnea for normal ventilation figures, a proportional lengthening in the expiration duration with a reduced mean output; in the beginning of the phase, the output gets increased more rapidly and reaches a higher level than in the controls; then a slow and irregular decrease occurs. Inspiration is rapid and regular. The most perturbed expiration is to be found in the athetosic subjects who exhibit the most severe vocal disorders. These expiratory anomalies appear to be bound with a poor thoracic and laryngeal motor controlling during the passive phase of the respiration, whereas the automatic inspiratory movement takes place in a normal mood.

A patient with familial idiopathic hypoparathyroidism whose major symptoms were paroxysmal kinesigenic choreoathetosis (PKC) and paroxysmal dystonic choreoathetosis (PDC) was reported. CT revealed marked calcification in the basal ganglia, the thalamus and the dentate nucleus of cerebellum. Positron emission tomographic (PET) study showed decreased glucose metabolism in the basal ganglia and thalamus. The paroxysms were eliminated by the normalization of serum calcium level. Thus the paroxysms seemed to be induced by hypocalcemia which stimulated the lesions in the basal ganglia and thalamus, on one occasion, as in PKC, and on the other occasion, as in PDC. Concomitant occurrence of both PKC and PDC in a patient is unique and is of interest in considering the pathomechanisms of these different but related disorders.

The authors present the case of a patient with a striated syndrome resembling Wilson's disease but without the disorder of cooper metabolism. The clinical picture was completely masked by a hypokalemia at 1 mEq/l following urinary loss of this cation, due to ascending interstitial nephritis. Correction of the potassium deficiency produced rapid reappearance of the initial neurological syndrome.

Following the seminal works of Canter (152) and Darley, et al. (1) concerning differential diagnosis and classification of dysarthria, considerable strides have been made with regard to characterizing the features of speech that occur with disorders of movement. Research should continue to address the neurophysiologic substrates of the dysarthrias of movement disorders, and most importantly, efficacious means of treating these impairments of speech.

Operative treatment was performed in nine patients with cervical spondylotic myelopathy complicating athetoid cerebral palsy. The first two patients were treated by laminectomy, and the other seven by anterior interbody fusion. The symptoms in both the laminectomy patients improved after operation, but became worse again when cervical instability developed; they then had to have an anterior fusion in addition. In six of the seven patients who had primary anterior fusion a halo-cast (or a halo-vest) was used to keep the cervical spine immobile, and good bony fusion was obtained with satisfactory results. However, in one patient no halo apparatus was used, bony union did not occur and the radiculopathy reappeared. In cervical myelopathy complicating athetoid cerebral palsy laminectomy is contra-indicated; anterior fusion combined with a halo apparatus is, however, satisfactory.

A patient with paroxysmal dystonic choreoathetosis also had familial ataxia. His brother was similarly affected but had rare paroxysmal episodes. No secondary or symptomatic forms of this type of paroxysmal dyskinesia have ever been reported. Episodes were briefly controlled with acetazolamide and were almost completely eliminated by clonazepam therapy.

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.

The manifestations and pathomechanism of cervical instability of the athetoid neck in cerebral palsy (CP) patients was clarified in this study by means of static and dynamic x-ray analysis. Instability was defined as follows: 1) listhesis indicating anterior or posterior slip of more than 3 mm and/or 2) sagittal rotation between two vertebrae beyond the normal range measured by Penning. Cervical instability fitting this definition mainly took place in the upper and middle cervical disc levels, such as C3-4, C4-5, and/or occasionally C5-6. These coincide with the disc levels adjacent to the apex of the lordotic curve and/or those around the transitional vertebrae between the two reversed curves that render the cervical spine S-shaped in athetoid CP. A large facet angle at the apex vertebra facilitated anterior and/or posterior listhesis of the vertebrae. Conversely, a sudden decrease in the facet angle around the transitional vertebra in S-shaped curves precipitated deflection of the spine and increased sagittal rotation at this level. In addition to these structural abnormalities, rapid and repetitious neck movements seemed to accelerate the progression of cervical instability in athetoid CP patients.

Seven cases in a family of hereditary spino-cerebellar degeneration (SCD) similar to dentatorubro-pallido-Luysian atrophy (DRPLA) were reported. The clinical features of these cases were disturbance of ocular movement (limitation of ocular movement and slow eye movement (SEM], remarkable amyotrophy, choreoathetosis, dementia and sleep apnea. The brain CT's revealed marked atrophy in pons and cerebellum. Amyotrophy had been reported in the case of DRPLA, particular ataxo-choreoathetoid form (by Hirayama). Muscle biopsy was performed in these cases, which showed scattered small angulated fiber, severe atrophic fiber with pyknotic nuclear clump, fiber type grouping and small rounded fiber were mixed. These findings indicates neurogenic change of radiculoneuropathy type (by Tanabe). In many reported cases of DRPLA and SCD with amyotrophy, this type of muscle biopsy had not been recognized. In SCD with amyotrophy, a main lesion had existed on peripheral nerve. In this case, there was no definite clinical findings (sensory disturbance, delay of conduction nerve velocity, peripheral neuropathy in nerve biopsy). In recent years, several unclassified cases of SCD with amyotrophy had been reported, which had multi-system degeneration involving peripheral neuropathy. This case is similar to these cases, which is speculates multi-systemic lesions, not only DRPLA but also peripheral nerve involvement. On neuro-otological study, velocity of saccade was slow and persuit was reserved in proband case. In younger onset case, disturbance of saccade and pursuit was mild. In older progressive case, disturbance of saccade and pursuit was progressive and accompanied with severe limitation of ocular movement. Several autopsy cases of SEM had been reported.(ABSTRACT TRUNCATED AT 250 WORDS)