Ictal SPECT and paired stimulation SEP recovery curve in a patient with paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare and benign disorder with its onset in childhood. PKC generally improves with age, and its pathophysiology has not been revealed. We recorded both ictal and interictal SPECT in a 14-year-old girl with PKC. Ictal SPECT showed a significant decrease in blood flow in the caudate nucleus contralateral to the limb showing an involuntary movement. We also examined paired-pulse stimuli somatosensory evoked potential (SEP) of the same patient. Recovery pattern of P25 and N33 components was normal and comparable to 5 healthy volunteers, suggesting the absence of cortical hyperexcitability. These results suggest dysfunction or immaturity of the indirect pathway of basal ganglia in PKC, as well as the hyperexcitability of the descending pathway.     

Ictal alteration of 99mTc ECD SPECT imaging in a patient with secondary paroxysmal kinesigenic dyskinesia caused by hyperglycemia.

We described a 61-year-old man with diabetes mellitus who presented with hyperglycemia related paroxysmal kinesigenic dyskinesia (PKD) with sudden development of paroxysmal unilateral involuntary movements (IMs) of his neck and the left extremities. Ictal 99mTc-ethylcysteinate dimer SPECT (ECD-SPECT) revealed a hyperperfusion over the contralateral frontal cortex and a hypoperfusion over the contralateral basal ganglia. Immediate correction of hyperglycemia after admission resulted in a marked improvement of IMs and a return to normal cerebral blood flow on interictal ECD-SPECT imaging. These findings suggest that dysfunction of the indirect pathway through the basal ganglia lead to an imbalance of the cortico-striato-thalamo-cortical circuit and may have contributed to the cause of PKD in this case.     

Focal paroxysmal kinesigenic choreoathetosis

Three cases of paroxysmal kinesigenic choreoathetosis are described in whom unilateral attacks were focally induced, together with a case in whom bilateral attacks only occured. Treatment with phenytoin was effective in all cases. The aspects of the literature relating to focal and generalised attacks in paroxysmal kinesigenic choreoathetosis are reviewed.     

Event-related brain potentials in paroxysmal kinesigenic choreoathetosis

Event-related brain potentials (ERPs) were recorded in a 30 year old female patient with familial kinesigenic choreoathetosis and a group of control subjects. In line with previous observations the patient exhibited an enhanced amplitude of the early component of the contingent negative variation of the ERP in a two stimulus paradigm. Moreover, a greatly enhanced P3 amplitude was found in auditory and visual classification (oddball) paradigms. These results suggest a general upregulation of widespread subcortical projection systems leading to both, abnormal movements and abnormally high amplitudes of ERPs.     

Preprogramming motor dysfunction in paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by abnormal involuntary movements precipitated by sudden movement. As a result, a possible impairment of cerebral organization of voluntary motor activity is hypothesized in PKC. We examined a 14-year-old boy affected by a sporadic form of PKC, adopting a multimodal psychophysiological approach, including P300, contingent negative variation (CNV) and a specific paradigm for the study of movement related potentials (MRPs). Recordings were made before and after phenobarbital therapy. No changes were observed in the non-motor parameters (P300 and early wave of the CNV), whereas the premotor CNV component and the electrophysiological components, reflecting the preprogramming activity of a voluntary motor act, showed selective modifications induced by the anticonvulsant therapy. Our PKC patient presents a disorder of temporal organization of a voluntary motor response to a stimulus. Both a clinical improvement and normalization of motor-related electrophysiological anomalies were observed during phenobarbital (PB) therapy.     

Topiramate therapy for paroxysmal kinesigenic choreoathetosis.

We observed the clinical efficacy of topiramate for paroxysmal kinesigenic choreoathetosis (PKC). Topiramate was administered as a monotherapy with titrated dosages to 8 patients with PKC. Target daily dose of topiramate was 100 to 200 mg; the follow-up period ranged from 8 months to 2 years. All of the patients became attack-free, and side effects were mild. The results show that topiramate is effective as a monotherapy for treating patients with PKC. The response to topiramate indicates that the disease may be caused by an ion channel defect.     

Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis is often responsive to anticonvulsants such as carbamazepine and phenytoin. We report a boy with paroxysmal kinesigenic choreoathetosis, which is dramatically relieved by oxcarbazepine even after unsatisfactory treatment with carbamazepine and other medications.     

发作性肌张力障碍38例临床分析

目的提高对发作性肌张力障碍临床特征的认识,以引起临床重视,减少误诊。方法对发作性肌张力障碍的类型、临床特征、电生理表现、治疗转归以及发病机制等进行总结、分析。结果发作性肌张力障碍临床可分三型,不同类型有不同的诱因;患者多为青少年男性,发作表现为舞蹈样手足徐动、躯体扭转及扮鬼脸等肌张力障碍,形式多样,发作时无意识丧失;发作期及发作间期脑电图均无特异性异常,其余多项辅助检查也无异常。结论发作性肌张力障碍是一种不同于癫癎的独立的疾病。     

A discrepancy between Tc-99m HMPAO SPECT and Tc-99m ECD SPECT in Creutzfeldt-Jacob disease.

We observed a discrepancy between the perfusion patterns seen in single photon emission computed tomography (SPECT) images obtained using technetium-99m hexamethyl propylene amine oxime (HMPAO) and SPECT images obtained using technetium-99m ethyl cysteinate dimer (ECD) in an 84-year-old man with Creutzfeldt-Jacob disease (CJD). HMPAO-SPECT demonstrated a reduction in perfusion in the parieto-temporal regions, especially the left temporal area. However, ECD-SPECT revealed a significant reduction in the bifrontal regions. At autopsy, the characteristic pathological findings of CJD, spongiform vacuolation, were most prominent in the bifrontal regions. Thus, the clinical features and the pathological findings were more closely correlated with the ECD-SPECT images than the HMPAO-SPECT images.     

The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy

PURPOSE: To clarify the relationship between paroxysmal kinesigenic choreoathetosis (PKC) and epilepsy, we investigated the clinical and electroencephalographic (EEG) findings of patients with familial PKC and epilepsy, as well as sporadic cases with both PKC and epilepsy. PATIENTS AND METHODS: Patients consisted of 12 familial cases from seven families and three sporadic cases. The period of follow-up ranged from 17 months to 33 years, 7 months (average: 16 years, 8 months). During the follow-up, a total of 163 EEGs (11 EEGs per subject) were studied, including interictal and ictal EEGs. RESULTS: Transient epileptic discharges were found in ten of the 15 patients (66.7 %) during the clinical course. As for focus, centro-midtemporal and frontal spikes were most often observed. The ictal EEG of an afebrile convulsion in one patient showed a partial seizure with secondary generalization which originated from the frontal area. CONCLUSIONS: It appears that patients who suffer from both PKC and epilepsy have a functional abnormality of the cerebral cortex, particularly in the perirolandic and frontal regions.     

阵发性运动源性舞蹈手足徐动症的临床分析

目的　探讨阵发性运动源性舞蹈手足徐动症的临床特征、诊断和治疗。方法　观察 15例PKC病人的临床表现 (2例做了录像 ) ,进行EEG、CT、MR等辅助检查 ,均用卡马西平治疗并观察其转归。结果　本组 15例中 ,男 13例、女 2例 (男∶女 =6.5∶1) ,发病年龄 8～ 2 2岁 ,平均 11.4岁。生活环境及家族史 :本组 13例病人主要分布在中国东北部地区 (13 /15 ) ,14例无家族史 ,1例有家族史。临床突出表现为发作性一侧肢体的肌张力障碍和异动症 ,多数持续 10～ 3 0s(一般 <5min) ,每天发作 4～ 3 0次。均有明显的诱发因素 :紧张时或突发运动 (要跑步和突然站立 )时容易发作。头颅MR、CT、EEG、2 4小时EEG、视频EEG、肌电图 (EMG)等辅助检查均无异常发现。小剂量卡马西平可使症状完全消失 ,0 .0 5～ 0 .1g/d维持治疗 ,10例随访 1～ 1 5年无发作。结论　PKC是以运动诱发的表现为舞蹈样手足徐动症等肌张力障碍为特征的良性疾病 ,有异于癔病和神经症的发作特征 ,卡马西平能有效控制其发作。     

Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare movement disorder, characterized by recurrent, brief involuntary dystonic attacks that are provoked by sudden movements. Pathophysiology is uncertain, but a channelopathy is discussed. Treatment recommendations favour antiepileptic drugs (AEDs) acting on voltage-gated neuronal ion channels. This report summarizes the history of three children (6, 8, and 10 years of age) with idiopathic PKC successfully treated with low doses of lamotrigine, an AED acting primarily via neuronal voltage-sensitive sodium channels.     

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

We report seven families and two sporadic cases in which benign infantile convulsions and paroxysmal kinesigenic choreoathetosis were co-segregated. Clinical investigations included physical and neurological examinations, blood electrolyte values, interictal and ictal electroencephalograms, and computed tomography or magnetic resonance imaging of the brain. The family pedigree was confirmed and the clinical history of the relatives was obtained. Seventeen individuals developed infantile convulsions followed by paroxysmal dyskinesias during childhood or adolescence. Six had only infantile convulsions, and two had only paroxysmal dyskinesias. The seizures never persisted into childhood or recurred in adulthood. The seizure type was a complex partial seizure, with or without secondary generalization, in nine of 14 patients. Paroxysmal dyskinesias, a subgroup of paroxysmal kinesigenic choreoathetosis, occurred for less than 5 min. The attacks of dyskinesias began at age 5-12 years in most patients, and tended to remit in adulthood. The mode of inheritance was apparently autosomal dominant in four of the families (17 affected individuals), who were diagnosed with ICCA syndrome (infantile convulsions and paroxysmal choreoathetosis). However, the condition occurred only among siblings in three families (six patients), and sporadically in two patients, suggesting genetic heterogeneity in this distinct co-segregation.     

Autosomal dominant paroxysmal kinesigenic choreoathetosis: An electroneurophysiological study

A case of an 11-year-old boy with an autosomal dominant form of paroxysmal kinesigenic choreoathetosis is presented. Routine EEG, sleep EEG recording, and registration of visual evoked potentials and somatosensory evoked potentials were normal. EEG with videomonitoring and registration of event-related potentials, however, showed abnormalities, which are discussed in detail. Our data provide further arguments in support of the hypothesis that paroxysmal kinesigenic choreoathetosis is the expression of a dysbalance in the cortico-striopallidal-thalamic loop, and has an extrapyramidal genesis.