Effect of acupuncture treatment on nonketotic hyperglycemic hemichorea-hemiballismus: a case report.

Nonketotic hyperglycemic hemichorea-hemiballismus is a rare syndrome in the clinic, and treatment is often delayed. Hypoglycemic therapy is the most widely used and effective treatment, but some patients experience a slower improvement. Other symptomatic treatment medicines have some degree of side effects. Acupuncture treatment is beneficial for hemichorea-hemiballismus. A male patient, aged 59 years, first visited our hospital outpatient department due to motor agitation with involuntary movements of the right limb. He had a history of type 2 diabetes mellitus and poor blood glucose control. His serum glucose was 26.5 mmol/L (normal: 4.4-6.1 mmol/L), and magnetic resonance imaging demonstrated an irregular area of high signal intensity in T1-weighted imaging, low signal intensity on T2-weighted imaging, and high signal intensity in the left corpus striatum in T2-FLAIR imaging. Hospitalization was recommended for the patient. After ruling out other possibilities, he was eventually diagnosed with nonketotic hyperglycemic hemichorea-hemiballismus. Intensive glycemic control was immediately started with subcutaneous injection and acupuncture treatment at "governor vessel 13 acupoints", and the involuntary movements completely disappeared on the ninth day of hospitalization. The pathophysiology of nonketotic hyperglycemic hemichorea-hemiballismus is unclear. Different patient histories lead to different brain tissue conditions, and relapses and uncontrolled blood glucose add difficulties to treatment. According to Traditional Chinese Medicine theory, insufficient kidney essence leads to brain dystrophy and causes the symptoms of hemichorea-hemiballismus. Research evidence has shown that acupuncture at "governor vessel 13 acupoints" has a beneficial treatment effect on nonketotic hyperglycemic hemichorea-hemiballismus.

Shoulder pain and scapular dyskinesis associated with lower trapezius dysplasia - A case report.

BACKGROUND: Scapular dyskinesis (SD) has been associated with shoulder soft-tissue tightness as well scapular muscle strength and/or activation deficits. Inadequate development of the trapezius muscle (trapezius dysplasia) is a relatively rare condition inconsistently associated with shoulder dysfunction. CASE DESCRIPTION: a 24-year old male complaining of left scapular area pain associated with SD and scapular muscle weakness was noted to present with a smaller ipsilateral lower trapezius (LT). Further inquiry including electromyography, rehabilitative ultrasound imaging (RUSI) and magnetic resonance imaging ruled out nerve palsy and demonstrated a hypoplastic left LT. This led to a greater emphasis on serratus anterior (SA) training along with the addition of neuromuscular electrical stimulation of the LT. OUTCOMES: Following 12 sessions over a 5-month period the patient reported no pain or functional deficits, and was able to resume all recreational activities. The patient's subjective shoulder value increased from 55% to 80%, and LT strength was markedly improved. DISCUSSION: Scapular muscle dysplasia may represent a less recognized cause of SD. A more thorough inspection of scapular muscle shape and orientation, possibly augmented by RUSI may be indicated in patients presenting with SD. Neuromuscular electrical stimulation is a potentially useful modality for addressing scapular muscle activation and strength deficits and future research into its efficacy under these circumstances may be warranted.

Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.

BACKGROUND: WARS2 encodes a tryptophanyl tRNA synthetase, which is involved in mitochondrial protein synthesis. Biallelic mutations in WARS2 are rare and have been associated with a spectrum of clinical presentations, including neurodevelopmental disorder with abnormal movements, lactic acidosis with or without seizures (NEMMLAS). CASE PRESENTATION: Here we present the case of an 8-year-old girl with ataxia and parkinsonism with periventricular white matter abnormalities on magnetic resonance imaging (MRI) and global developmental delay. The initial investigations revealed an elevated lactate level. Extensive metabolic testing, including a muscle biopsy, was inconclusive. Cerebrospinal fluid (CSF) neurotransmitter levels were low; however, a trial of levodopa was unremarkable. The chromosomal microarray and initial ataxia gene panel was normal. Zinc supplementation for a heterozygous variant of unknown significance in the CP gene on the ataxia exome panel was not effective in treating her symptoms. Reanalysis of the ataxia exome panel highlighted biallelic mutations in WARS2, which lead to the diagnosis of neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (NEMMLAS). This lead to parental genetic testing, redirected therapy, and helped to expand the symptomology of this rare condition. CONCLUSION: Here we emphasize the importance of imminent and repeat expanded genetic testing to ensure early diagnosis and treatment for rare pediatric disorders. The patient is being trialed on a mitochondrial cocktail in an attempt to compensate for defects in mitochondrial protein synthesis associated with this variant. Longitudinal monitoring of disease manifestation will help establish the currently unknown natural history of this condition.

Injury of the dentato-rubro-thalamic tract in a patient with mild traumatic brain injury.

BACKGROUND: Several studies using diffusion tensor tractography (DTT) have demonstrated injury of the dentato-rubro-thalamic tract (DRTT) in various brain pathologies. However, no study on traumatic brain injury (TBI) has been reported. This case study attempted to demonstrate injury of the DRTT in a patient with mild TBI, using DTT. CASE DESCRIPTION: A 41-year-old female patient suffered from head trauma resulting from flexion-hyperextension injury by being hit from behind by a running car while stopped at an intersection. The patient lost consciousness and experienced post-traumatic amnesia for ∼1minute from the time of the car-accident. The patient's Glasgow Coma Scale score was 15. No specific lesion was observed on brain MRI. At 2 weeks after onset, the patient began to show resting and intentional tremor (more severe in the right upper and lower extremities) and ataxic gait. Her symptoms had been aggravated with the passage of time. On 1-month DTT, the left DRTT, which originated from the left dentate nucleus of the cerebellum, was thinner than the right DRTT. CONCLUSIONS: This study demonstrated injury of the DRTT in a patient with tremor and ataxia following mild TBI, using DTT. It is believed that analysis of the DRTT using DTT would be useful in elucidating the cause of post-traumatic abnormal movements.

Psychomotor symptoms of schizophrenia map on the cerebral motor circuit.

Schizophrenia is a devastating disorder thought to result mainly from cerebral pathology. Neuroimaging studies have provided a wealth of findings of brain dysfunction in schizophrenia. However, we are still far from understanding how particular symptoms can result from aberrant brain function. In this context, the high prevalence of motor symptoms in schizophrenia such as catatonia, neurological soft signs, parkinsonism, and abnormal involuntary movements is of particular interest. Here, the neuroimaging correlates of these motor symptoms are reviewed. For all investigated motor symptoms, neural correlates were found within the cerebral motor system. However, only a limited set of results exists for hypokinesia and neurological soft signs, while catatonia, abnormal involuntary movements and parkinsonian signs still remain understudied with neuroimaging methods. Soft signs have been associated with altered brain structure and function in cortical premotor and motor areas as well as cerebellum and thalamus. Hypokinesia is suggested to result from insufficient interaction of thalamocortical loops within the motor system. Future studies are needed to address the neural correlates of motor abnormalities in prodromal states, changes during the course of the illness, and the specific pathophysiology of catatonia, dyskinesia and parkinsonism in schizophrenia.

Effects of innovative virtual reality game and EMG biofeedback on neuromotor control in cerebral palsy.

Sensorimotor control dysfunction or dyskinesia is a hallmark of neuromuscular impairment in children with cerebral palsy (CP), and is often implicated in reaching and grasping deficiencies due to a neuromuscular imbalance between the triceps and biceps. To mitigate such muscle imbalances, an innovative electromyography (EMG)-virtual reality (VR) biofeedback system were designed to provide accurate information about muscle activation and motivation. However, the clinical efficacy of this approach has not yet been determined in children with CP. The purpose of this study was to investigate the effectiveness of a combined EMG biofeedback and VR (EMG-VR biofeedback) intervention system to improve muscle imbalance between triceps and biceps during reaching movements in children with spastic CP. Raw EMG signals were recorded at a sampling rate of 1,000 Hz, band-pass filtered between 20-450 Hz, and notch-filtered at 60 Hz during elbow flexion and extension movements. EMG data were then processed using MyoResearch Master Edition 1.08 XP software. All participants underwent both interventions consisting of the EMG-VR biofeedback combination and EMG biofeedback alone. EMG analysis resulted in improved muscle activation in the underactive triceps while decreasing overactive or hypertonic biceps in the EMG-VR biofeedback compared with EMG biofeedback. The muscle imbalance ratio between the triceps and biceps was consistently improved. The present study is the first clinical trial to provide evidence for the additive benefits of VR intervention for enhancing the upper limb function of children with spastic CP.

Pathophysiology of unilateral asterixis due to thalamic lesion.

OBJECTIVE: Unilateral asterixis has been reported in patients with thalamic lesion. This study aims at elucidating the pathophysiology of the thalamic asterixis. METHODS: Two cases with unilateral asterixis caused by an infarction in the lateral thalamus were studied by analysing the asterixis-related cortical activities, transcranial magnetic stimulation (TMS) for motor cortex excitability and probabilistic diffusion tractography for the thalamo-cortical connectivity. RESULTS: Averaging of electroencephalogram (EEG) time-locked to the asterixis revealed rhythmic oscillations of a beta band at the central area contralateral to the affected hand. TMS revealed a decrease in the motor evoked potential (MEP) amplitude and a prolongation of the silent period (SP). The anatomical mapping of connections between the thalamus and cortical areas using a diffusion-weighted image (DWI) showed that the lateral thalamus involved by the infarction was connected to the premotor cortex, the primary motor cortex (M1) and the primary somatosensory cortex (S1) of the corresponding hemisphere. CONCLUSIONS: The thalamic asterixis is mediated by the sensorimotor cortex, which is subjected to excessive inhibition as a result of the thalamic lesion involving the ventral lateral nucleus. SIGNIFICANCE: This is the first demonstration of participation of the sensorimotor cortex in the generation of asterixis due to the lateral thalamic lesion.

Subthalamic lesion on MR imaging in a patient with nonketotic hyperglycemia-induced hemiballism.

SUMMARY: Hemiballism with corresponding striatal T1 hyperintensity on MR imaging has occasionally been reported in patients with nonketotic hyperglycemia. However, the subthalamic nucleus lesion, which is believed to be pathogenetically related to hemiballism, is rarely documented in a living patient with nonketotic hyperglycemia. We describe a patient with nonketotic hyperglycemia-induced hemiballism, whose responsible lesion (ie, the subthalamus) was demonstrated by MR imaging.

Turning in Parkinson's disease patients and controls: the effect of auditory cues.

Turning is an impaired activity in persons with Parkinson's disease (PwPD). The current study examines the turning characteristics in PwPD (9 freezers and 10 nonfreezers) and 9 controls, and explores the effect of rhythmic auditory cues while turning. Turning parameters were collected from a 180 degrees left U-turn during a noncued and a cued condition, using a 3D measuring system. Auditory cues were supplied with a metronome at a rhythm equaling the subject's comfortable step frequency during straight line walking. Results showed that in contrast to controls, PwPD used a wider turning-arc and took smaller, narrower steps. In addition, they demonstrated a higher Coefficient of Variation (CV) of step duration (6.92%) compared to controls (4.88%, P < 0.05). The "wide-arc" turning strategy of PwPD was more prominent in freezers than in nonfreezers. Auditory cues reduced the CV of step duration in PwPD (both freezers and nonfreezers) during turning (from 6.92 to 6.00%, P < 0.05). In summary: Cueing reduced the gait-timing variability during turning, but PwPD maintained a wider arc to turn compared with controls.

[Bilateral deep brain stimulation of subthalamic nucleus STN in the surgical treatment of Parkinson's disease]. / Obustronna gleboka stymulacja jadra niskowzgórzowego w operacyjnym leczeniu choroby Parkinsona.

Dopamine deficiency in the nigrostriatal system leads to a series of changes in the basal ganglia, resulting in an increased neuronal activity of the subthalamic nucleus (STN). Reduction of the STN glutaminergic excitatory effect on the main output structures of the basal ganglia (globus pallidum pars interna GPi and substantia nigra pars reticulata SNr) is accompanied by a marked alleviation of parkinsonian motor sings in the MPTP monkey model of parkinsonism. Also a high-frequency stimulation of STN in the MPTP monkey model of parkinsonism produced the same clinical effect as did lesioning. Due to these observations bilateral deep subthalamic stimulation was introduced in the treatment of PD patients with severe akinetic-rigid form of this disease. Four patients with akinetic-rigid PD form of PD were included in the study. The electrodes for deep brain stimulation were implanted in two separate surgical interventions in every case. The second implantation was performed not earlier than at least 3 months after the first procedure. Evaluations using the UPDRS were conducted before surgery in "on" and "off" conditions and at 3, 6 and 12 months after the bilateral implantation. Bilateral DBS STN seems to be the best stereotactic target in controlling motor symptoms in the "off" condition in the treatment of PD patients with severe symptoms. The technique enables a dramatic reduction in the daily dose of L-dopa.

Mini-asterixis in hepatic encephalopathy induced by pathologic thalamo-motor-cortical coupling.

Recently, it was shown that a slowed motor cortical drive in hepatic encephalopathy (HE) results in mini-asterixis (MA). During forearm elevation, the authors have now investigated the coupling between motor cortex and thalamic activity using magnetoencephalography in six cirrhotic patients with HE and MA and in six control subjects. HE patients showed thalamo-motor-cortical coupling at a significantly lower frequency than the coupling in control subjects. The pathologic motor cortical drive in HE probably results from altered thalamocortical oscillatory coupling.

Subthalamic stimulation in Parkinson disease: intraoperative predictive factors.

BACKGROUND: High-frequency stimulation of the subthalamic nucleus (STN) is an effective treatment for advanced forms of Parkinson disease. Postoperative improvement of motor parkinsonian disability is known to depend on patient selection and surgical targeting. OBJECTIVE: To determine which clinical and electrophysiological variables evaluated during the operation predict the postoperative clinical outcome of patients with Parkinson disease treated by bilateral high-frequency stimulation of the STN. METHODS: Intraoperative clinical and electrophysiological data obtained in 41 patients with Parkinson disease who underwent bilateral implantation of electrodes for STN stimulation were correlated with the improvement in parkinsonian disability assessed 6 months after the operation. RESULTS: The extent of STN neuronal activity recorded along the trajectory of the therapeutic electrode had no effect on the postoperative clinical outcome. The intraoperative improvement in segmental akinesia, but not rigidity, was predictive of the postoperative improvement in parkinsonian motor disability and reduction in daily levodopa-equivalent dosage. Parkinsonian motor disability scores assessed after surgery were lower in patients with intraoperative stimulation-induced dyskinesias than in those without stimulation-induced dyskinesias. CONCLUSION: The improvement of segmental akinesia and the observation of dyskinesias provoked by stimulation during the operation predict the best postoperative effects of bilateral STN stimulation on parkinsonian motor disability.

Bilateral lesions of thalamus and basal ganglia: origin and outcome.

Twenty-seven MRI examinations from 17 children (7 females, 10 males) with bilateral lesions of the basal ganglia and thalamus, presenting over a period of 8 years, were reevaluated, and correlated with the type of cerebral palsy (CP) as well as motor and cognitive impairment. Children were between 1 year 6 months and 17 years old at last examination (mean 5 years 9 months). Brain damage had occurred as a consequence of birth asphyxia in nine patients and of neonatal shock in four patients. No adverse event could be identified in four children. In these, late prenatal compromise is assumed, as extensive screening (including MR spectroscopy in two patients) did not yield an underlying metabolic disorder. Three different degrees of MRI lesion patterns could be defined: a mild pattern (involvement of nucleus lentiformis and ventro-lateral thalamus only; n=7), an intermediate pattern (involvement of nucleus lentiformis, ventro-lateral thalamus, and pericentral region; n=3), and a severe pattern (involvement of nucleus lentiformis, entire thalamus, pericentral region, and hippocampus; n=7). This grading of MRI findings correlated significantly with the severity of both cognitive and motor impairment and type of CP. Normal cognitive development and mild motor delay was only seen with the mild pattern. All children developed CP: purely dyskinetic CP was only seen with the mild pattern, whereas the dyskinetic-spastic or spastic CP types could be seen in all three lesion patterns, with dyskinetic-spastic CP more related to the moderate, and purely spastic CP more related to the severe pattern.

The subthalamic nucleus, hemiballismus and Parkinson's disease: reappraisal of a neurosurgical dogma.

The subthalamic nucleus (STN) currently is considered to play a key role in the pathophysiological origin of the parkinsonian state and is therefore the main target for surgical treatment of Parkinson's disease. The authors review the incidence of hemichorea/ballism (HCB) as a complication of thalamotomy, pallidotomy or campotomy procedures before the introduction of levodopa therapy, including the few reported cases accompanied by a neuropathological study. The literature shows that only a small number of parkinsonian patients with HCB had a lesion of the STN. Preliminary data in Parkinson's disease patients submitted to a subthalamotomy with current functional stereotaxy also indicate that HCB is a very rare complication. To explain this observation, we suggest that the parkinsonian state is characterized by an increased threshold for the induction of dyskinesia following STN lesioning. This arises as a consequence of reduced activity in the 'direct' GABA projection to the globus pallidus medialis (GPm) which accompanies dopamine depletion. Lesioning of the STN reduces excitation of the GPm, and theoretically this should induce dyskinesias. However, an STN lesion also, simultaneously, further reduces the hypoactivity in the globus pallidus lateralis (GPl) that is a feature of Parkinson's disease, and hence may compensate for GPm hypoactivity, thus self-stabilizing basal ganglia output activity and reducing the risk of HCB. We conclude that lesioning of the STN in Parkinson's disease is a feasible approach in some circumstances.

Unilateral pure thalamic asterixis: clinical, electromyographic, and topographic patterns.

Eleven patients (nine with infarctions and two with primary hematomas) with isolated thalamic lesions and contralateral asterixis were examined using a standard electromyographic and neuroimaging protocol. Asterixis was a short-duration phenomenon associated with a hemiataxia hypesthesia syndrome in all patients. Electromechanical synchronization was constant for the two silent period types. The anatomic data strongly suggest that ventral lateral or lateral posterior thalamus are concerned in the pathophysiology of thalamic asterixis.