De novo Huntington′s disease due to paternal intermediate alleles: a case report and literature review / 中华神经科杂志

Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.

Vitamin B12 deficiency and involuntary movement / 中华神经科杂志

Vitamin B12 deficiency mainly leads to anemia and subacute combined degeneration of the spinal cord.These two manifestations can often be diagnosed early,treated in time and reversed.However,vitamin B12 deficiency can cause a variety of involuntary movements such as chorea,tremor,myoclonus,Parkinson-like symptoms,and dystonia,which are ignored by clinicians and cannot be treated early,resulting in irreversible damage.Therefore,in this paper,the characteristics of 33 cases of vitamin B12 deficiency with involuntary movement in recent 20 years are summarized and the possible mechanisms are reviewed to improve the understanding of clinicians.

<b>A Case of Involuntary Movements Treated with Yokukansankashakuyakukoboku</b> / 日本東洋医学雑誌

We report the case of a 17-year-old male who had involuntary movements treated with yokukansankashakuyakukoboku. He had first recognized the involuntary movement 6 years previously. His symptom could not be alleviated with neurological and psychological treatments, and he visited our clinic for treatment with Kampo medicine. His symptom gradually alleviated with yokukansankashakuyakukoboku. The ancient physician Sekki (薛已) created yokukansan in China's Ming Dynasty. Yokukansan and its various add-on combinations were used in the Edo Era of Japan. Keisetsu Ohtsuka then created yokukansankashakuyakukoboku, which is however now rarely used because there is no extract drug in Japan. There are markedly nervous patients however, who can be treated with this formula. Thus, the authors feel that more research needs to be done on the differences between yokukansan and yokukansankashakuyakukoboku.

Painful legs and moving toes syndrome in a 16-year-old girl / 소아과

Painful legs and moving toes (PLMT) syndrome is characterized by spontaneous movements of the digits and pain in one or both lower extremities. Of the reported cases, a majority of the patients was female, and the mean age of onset was 58 years. Only one pediatric case has been reported so far. Herein, we report the first adolescent case of PLMT in Korea. A 16-year-old girl complained of tingling pain in the left leg and involuntary movement of the ipsilateral great toe one month after a second untethering surgery. Three years ago, she had undergone untethering surgery to correct lipomeningomyelocele at the S2 level of the conus medullaris. At that time, she was diagnosed with polyradiculopathy at the left L5 level with axonal involvement. We diagnosed her with PLMT syndrome and prescribed gabapentin. Her symptoms diminished within a day. Complete relief from involuntary movement of the toe was achieved within four months. PLMT is a rare syndrome but it should be considered in the differential diagnosis of children and adolescents with limb pain and spontaneous movement in their toes.

Complete resolution of myoclonus-like involuntary movements under subarachnoid block after midazolam administration in a patient undergoing cesarean section: a case report / 대한마취과학회지

Involuntary movement during and after neuraxial anesthesia, such as spinal and epidural anesthesia, is rarely observed. In this report, we describe a case of myoclonus-like involuntary movement of the upper extremities in a patient undergoing a planned repeat cesarean section under spinal anesthesia with bupivacaine that completely subsided after administration of 2 mg of midazolam. The myoclonus-like movement did not recur or cause any apparent neurological side effects.

Involuntary movements after ramosetron injection during propofol anesthesia: A case report

We report here on a case of a female patient with involuntary movements that lasted for approximately 8 hours after being administered a single dose of ramosetron, a highly selective serotonin 5-hydroxytryptamine type 3 5-HT3) receptor antagonist, to prevent postoperative nausea and vomiting (PONV) at the end of general anesthesia with using propofol. To the best of our knowledge, this is the first report of involuntary movement related to ramosetron.

Involuntary movements after ramosetron injection during propofol anesthesia: A case report

We report here on a case of a female patient with involuntary movements that lasted for approximately 8 hours after being administered a single dose of ramosetron, a highly selective serotonin 5-hydroxytryptamine type 3 5-HT3) receptor antagonist, to prevent postoperative nausea and vomiting (PONV) at the end of general anesthesia with using propofol. To the best of our knowledge, this is the first report of involuntary movement related to ramosetron.

Transcranial Direct Current Stimulation combined with Finger Splinting for Focal Hand Dystonia / The Japanese Journal of Rehabilitation Medicine

Patients with focal hand dystonia demonstrate abnormally increased corticospinal excitability, which has been reported to be ameliorated, at least for a short term, with low frequency repetitive transcranial magnetic stimulation (rTMS). Transcranial direct current stimulation (tDCS), which is less costly and easier to apply than rTMS, is also known to modulate cortical excitability. Especially with cathodal tDCS, cortical excitability can be reduced. On the other hand, upper extremity splinting is also known to reduce dystonic symptoms by inhibiting abnormal movement. We therefore combined cathodal tDCS with finger splinting to treat focal hand dystonia in a 34-year-old man with traumatic brain injury who showed involuntary movement of his right fingers during writing and chopsticks use. After 5 days of cathodal tDCS sessions (1mA, 10min), he was encouraged to use interphalangeal joint splints for his thumb and index finger during these activities. We assessed computer-rated handwriting, reciprocal inhibition and intracortical inhibition before, 24 hours and 3 months after the 5-day tDCS sessions. Before the treatment, his flexor pollicis longus (FPL) and first dorsal interosseous (FDI) muscles showed 4Hz rhythmic hyperactivity during writing, and reciprocal inhibition at interstimulus intervals (ISI) of 20 and 100 ms were lost. Paired pulse TMS also revealed disinhibited short interval intracortical inhibition (SICI) at an ISI of 2 and 3 ms. The 5-day tDCS sessions reduced FPL and FDI EMG activities, and SICI and RI at 20 and 100 ms were also restored. Wearing the finger splints, these improvements were maintained at the 3-month follow-up. This case report is the first to demonstrate the possible long-term effects of tDCS combined with splinting for focal hand dystonia. It is supposed that splinting after tDCS plays an important role in making the tDCS aftereffects last longer.

Correlations of Abnormal Involuntary Movements with Blood Glucose, Lipid Levels in Chronic Schizophrenics

OBJECTS: It has been reported that the incidence of tardive dyskinesia(TD), the remarkable abnormal involuntary movement, was higher in the schizophrenics with high blood sugar levels and that TD had been improved by small amount of insulin-injection for 90 days. And also it was generally known that the blood lipids were higher in the schizophrenics with tardive dyskinesia. Thus, we tried to replicate the correlations of abnormal involuntary movements with blood sugar levels and blood lipids in chronic schizophrenics treated with antipsychotics. METHODS: Thirty-eight male schizophrenic inpatients who were stable in clinical state with medications, were included. The patients who had been already diagnosed as diabetes mellitus(DM), organic brain disorder, substance-related disorder, physical illness were excluded and also we excluded female patients to remove the hormonal effect on TD. Eleven patients who ranked higher(above five) in the Abnormal Involuntary Movement Scale(AIMS) were assigned into 2 groups, a dibenese group and a placebo group. Diabinese or placebos were administrated for 3 weeks with antipsychotics and AIMS was rechecked. RESULTS: There were no correlations between the total AIMS scores and blood sugar and lipids levels in all subjects. The means of total and subscale scores(objective, face, and extremity) of AIMS did not reveal statistical significances between diabinese and placebo groups. However(total, jaw, face, upper arm, and objective feeling), were statistically higher in the diabinese group than those in the placebo group. And correlations of total cholesterol(TC) with fast blood sugar(FBS), weight with body mass index(BMI) and waist, total glycerol (TG) with BMI were statistically significant. CONCLUSION: In this study, there were statistical significances in the changes in ratings of AIMS scores between the diabinese group and the placebo group. Application of oral hypoglycemic agent might be a way of improving abnormal involuntary movements in schizophrenics with abnormal involuntary movements or TD. Althogugh it was not certain that there were correlations of abnormal involuntary movement with blood sugar and lipids, correlations of TC/TG with AIMS, of FBS with AIMS cautiously suggest that the regular check of HbA1C, waist, and weight are recommended for schizophrenics.

Preparation and assessment of the behavior of the rat model of levodopa-induced dyskinesias / 中华物理医学与康复杂志

Objective To study the behavioral characteristics of a rat model of the levodopa-induced dyskinesia (LID) and the related factors, and to define clinically the relevant methods for assessing akinesia and dyskinesia in LID rats. Methods Unilaterally lesioned rat model of Parkinson′s disease using 6-hydroxydopamine were treated by levodopa and benserazide once daily for 3 weeks, on the 21st day the acute systemic administration of MK-801 was performed 15 min prior to levodopa treatment to observe the behavior (abnormal involuntary movement, rotation behavior and forelimb stepping) and to estimate the quality of AIM by using the rat AIM rating scale. Immunohistochemical technique was used to measure the number of TH-positive neurons in the substantia nigra (SN) and ventral tegmental area (VTA), which was then correlated to the AIM scores. Results Pulsatile treatment with a subthreshold dose of levodopa gradually induced abnormal involuntary movement (AIM), including stereotypy (limb dyskinesia, axial dystonia and masticatory dyskinesia) towards the side contralateral to the dopamine-denervated striatum and increased rotational behavior. The onset of AIM and motor pattern of each subtype was highly stereotypic across individual rats, and the proportion of each subtype was not consistent among individual rats. The number of TH-positive neurons in the VTA, but not in the SN, was significantly decreased in the LID rats compared with the non-LID rats. MK-801 prevented stereotypy but not rotational behavior. Contralateral forepaw performance was signi-ficantly improved after levodopa treatment, but gradually reduced with more and more severe AIM following repeated levodopa therapy. Conclusion Levodopa-induced rat AIM model of PD demonstrated similar properties with the levodopa-induced dyskinesia (LID) in PD patients, and provided an effective tool for LID study. AIM rating and forelimb stepping test are useful for evaluating the dyskinesia and akinesia of PD rats.

Propofol and Involuntary Movements in Children: The Differences on Infusion Rates / 대한마취과학회지

BACKGROUND: Although the pro-convulsant or anticonvulsant properties of propofol remain a matter of controversy, it is evident that propofol can produce involuntary movement. Such movement is a relatively common side effect, especially in children, and may be dose-related or injection rate-related. The goal of this study was to evaluate the effect of injection rate upon involuntary movement during propofol induction in children. METHODS: Children (age 3-14 yr) undergoing elective Eye and ENT surgery were randomly allocated to one of 4 groups based on the propofol injection rate (A, manual/15 s; B, 360 ml/hr; C, 200 ml/hr, D, 100 ml/hr) using a manual injection method and syringe pumps. No premedication was used. The induction dosage of propofol was 3 mg/kg in all groups. Fentanyl 1mcg/kg and 1% lidocaine 1-2ml were given I.V. before propofol. Involuntary movement was graded 0-2 on severity. The infused dose of propofol at movement was measured. Movement due to pain or mask fitting was not regarded as an involuntary movement. All results were analyzed using the Chi-Square Test and ANOVA. RESULTS: 595 children were studied. Age, gender, and weight were similar in the 4 groups. Involuntary movements were apparent in 179 (30.1%) of the 595 subjects. Movements were significantly less in group A (12.4%) and B (16.4%) compared to group C (46.6%) and D (45.3%). The grades of movement were not different among the 4 groups. The durations of movement in group A and B were significantly short compared to group C and D. The infused dose of propofol (mg/kg) at movement was higher in group C (2.65+/-0.62) than in A (1.99+/-0.62) and B (2.43+/-0.78). There were no significant hemodynamic and SPO2 changes during and after the propofol injection. CONCLUSIONS: We concluded that slow injection may increase the incidence of involuntary movement during propofol induction in children. Since the bolus injection rates are usually slow in most syringe pumps, manual injection for 10 15 s may be a better choice for smoother induction, as it requires fewer interventions to prevent venous catheter displacement in children.

Involuntary Movement associated with Stroke

BACKGROUND: Involuntary movement is a rare symptom of stroke. The pathophysiologic mechanism is poorly understood. METHODS: We retrospectively evaluated the medical records of 1547 stroke patients who have been admitted to the Seoul National University Hospital from March, 1988 to March, 1997. RESULTS: We found 18 patients with involuntary movements. Dystonia was observed in 10 patients, ballism or chorea in 8 patients and tremor in 5 patients. Anatomical structures responsible for dystonia were thalamus, lenticular nucleus, caudate nucleus and midbrain. Ballism-chorea was associated with lesions of subthalamic nucleus, thalamus, and lenticular nucleus. Tremor was associtated with lesions of thalamus, lenticular nucleus and midbrain. Ballism-chorea was present in the onset of stroke in 6 cases, 2 months after stroke in 1 case, and 21 months after in 1 case. But only 1 case of dystonia was present in the onset of stroke, 2 cases within 7 days, 5 cases in one week to one month, and 2 cases after one month. The involuntary movements subsided in 5 cases of hemiballism-chorea and in 3 cases of dystonia In most of the improved cases, the symptoms subsided in a month. CONCLUSIONS: Basal ganglia and thalamus were the main areas involved where lesions associated with involuntary movements were reported. The nature of involuntary movements was variable. However, lesions in subthalamic nucleus resulted only in ballism-chorea. The presence of only ballism chorea, but not any other involuntary movements, due to subthalamic nucleus lesions indicates that an indirect pathway may play a role in the pathogenesis of ballism-chorea. The latency between the onset of stroke and involuntary movements was longer in dystonia than ballism-chorea. The course of ballism-chorea was generally better than dystona.

The Effects of the Loading Dose and Addition of Midazolam on the Involuntary Movement during Induction of Anesthesia with Propofol in Children / 대한마취과학회지

BACKGROUND: Spontaneous involuntary movements are a relatively common side effect during induction of anesthesia with propofol and related with the loading dose, especially in children. Midazolam has GABAergic effects that may modify propofol-induced involuntary movements. So the aims of this study was to determine the dose of propofol for induction without involuntary movements in unpremedicated children and to confirm that midazolam may interact with propofol to modify neuroexcitatory movements. METHODS: Seventy two ASA physical status I, II children, between 4~13 yrs of age were included. The children were randomly assigned to group I (propofol 3 mg/kg), II (propofol 4 mg/kg), III (midazolam 0.1 mg/kg+propofol 3 mg/kg), or IV (midazolam 0.1 mg/kg+propofol 4 mg/kg). After the injection of propofol loading dose, an independent anesthesiologist graded the incidence, severity (grade 1~4), and duration of involuntary movements. RESULTS: Spontaneous movements were described as excitatory, dystonic, and choreiform, with twisting, flexion, and extension of the arms and legs. The incidence of involuntary movements did not differ between groups. But the incidence of moderate to severe movements was higher in group II than any other group. CONCLUSIONS: Intravenous midazolam 0.1 mg/kg failed to modify propofol-induced involuntary movements during induction of anesthesia with propofol loading dose 3 mg/kg and 4 mg/kg.