Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Adult ; Atrophy* ; Cerebellar Ataxia ; Chorea ; Dystonia ; Endothelial Cells ; Humans ; Intellectual Disability ; Seizures ; Spinocerebellar Ataxias ; Spinocerebellar Degenerations

Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.
Adult ; Atrophy* ; Cerebellar Ataxia ; Chorea ; Dystonia ; Endothelial Cells ; Humans ; Intellectual Disability ; Seizures ; Spinocerebellar Ataxias ; Spinocerebellar Degenerations

BACKGROUND & PURPOSE: Although several investigators have been studying EMG activities in projected movements, a complete and satisfactory understanding of the EMG patterns is still lacking. This present study is an attempt to define these patterns for certain stereotyped movements in a normal population, and to investigate the electrophysiologic mechanisms of abnormal movements in common extrapyramidal disorders. METHODS: 10 Patients with Parkinson's disease and 10 patients with cerebellar disease were tested with several different tasks, using stereotyped elbow flexions. They include fast active flexion(FAF), slow active flexion(SAF), fast passive flexion(FPF), slow passive flexion(SPF), and Antagonist-inhibition task. The recorded EMG activities from biceps(agonist) and triceps(antagonist) were analysed by being compared with normal patterns of the control group. RESULTS AND CONCLUSIONS: In most patients with Parkinson's disease, EMG patterns during some smooth flexion tasks(active and passive) were abnormal and were characterised by persistent co-contractions both in biceps and triceps. The EMG patterns during a fast flexion task(active and passive) were also abnormal in about half of all patients with Parkinson's disease. This study demonstrates that both slow and fast movements are abnormal in patients with Parkinson's disease, however slow movements are more difficult than fast movements in patients with Parkinson's disease. In a task designed to investigate antagonist inhibition before agonist activities, a majority of the patients with Parkinson's disease showed normal inhibition patterns. This study suggests that, contrary to previous claims, slowness of movement be not due to either failure to relax, or rigidity in antagonist muscles. In patients with cerebellar disease, EMG patterns during a fast flexion task showed prolongation of the initial biceps and/or triceps components, and it is suggested that this abnormality might be an elemental feature of dysmetria. All patients with cerebellar disease.
Basal Ganglia ; Basal Ganglia Diseases ; Cerebellar Ataxia ; Cerebellar Diseases* ; Cerebellum ; Dyskinesias ; Elbow ; Humans ; Muscles ; Parkinson Disease* ; Research Personnel

BACKGROUND: Although several investigators have been studying EMG activity in projected movment, a complete and satisfactory understanding of the EMG patterns is still lacking. This present study is an attempt to define these patterns for certain stereotyped movement in a normal population, and to investigate the electrophysiologic mechanisms of abnormal movements in extrapyramidal disorders. METHODS: 5 Patients with Parkinson's disease and 5 patients with cerebellar disease performed several different stereotyped elbow flexion tasks, and the EMG patterns from biceps and triceps were compared with control group. RESULTS: In patients with Parkinson's disease characterized, EMG pattern during a smooth felxion task was almost always abnormal and was chracterised by alternating activity in biceps and triceps. The EMG patterns during a fast flexion task were also usually abnormal although they were always composed of bursts of EMG activity of normal duration appearing alternately in the agonist and antagonist muscles. So, This study demonstrates that both slow and fast movement are clearly abnormal in these patients with diesase of the basal ganglia. In a task designed to investigate antagonist inhibition before agonist activity, a majority of the patients performed normally. CONCLUSIONS: This study suggest that, contrary to previous claims, slowness of movement is not due either to failure to relax or to rigidity of agtagonist muscles. In patients with cerebellar disease, EMG pattern during a fast flexion task showed prolongation of the initial biceps and/or triceps components, and it is suggested that this abnormality might be an elemental featrure of dysmetria. 3 of 5 patients showed the normal pattern of smooth felxion indicating that, with cerebellar deficits, smooth movements are better preserved than fast movements. The timing of the cessation of triceps activity before the initiation of biceps activity in an alternating movement was abnormal in 4 of 5 patients; this abnormality might be an elemental feature of dysdiadochokinesia.
Basal Ganglia Diseases ; Basal Ganglia* ; Cerebellar Ataxia ; Cerebellar Diseases ; Cerebellum ; Dyskinesias ; Elbow ; Humans ; Muscles ; Parkinson Disease ; Research Personnel

Chronic acquired hepatocerebral degeneration (CAHD) is a progressive or episodic neurologic syndrome that occurs occasionally in patients who have chronic liver disease or portocaval shunt. The clinical features of CAHD include action and postural tremors, generalized chorea, asterixis, myoclonus, dystonia, resting tremor, gait ataxia, and variable impairments of intellectual function. We experienced 2 cases of CAHD with unusual neurologic manifestations, which were hypokinetic parkinsonian symptoms. Both cases had a history of liver cirrhosis and the same symptoms. They had masked faces, cogwheel rigidiy in both wrists, slurred speech, tongue tremor, bradykinesia, and gait ataxia. They had normal mental status and no pathologic reflex. Brain MRI showed abnormal, increased signal on T1-weighted images in the globus pallidus and mesencephalon bilaterally. The hypokinetic parkinsonian symptoms disappeared when given doses levodopa.
Brain ; Chorea ; Dyskinesias ; Dystonia ; Gait Ataxia ; Globus Pallidus ; Hepatolenticular Degeneration* ; Humans ; Hypokinesia ; Levodopa ; Liver Cirrhosis ; Liver Diseases ; Magnetic Resonance Imaging ; Masks ; Mesencephalon ; Myoclonus ; Neurologic Manifestations ; Reflex ; Tongue ; Tremor ; Wrist

BACKGROUND AND PURPOSE: Given the diverse phenotypes including combined non-dyskinetic symptoms in patients harboring mutations of the gene encoding proline-rich transmembrane protein 2 (PRRT2), the clinical significance of these mutations in paroxysmal kinesigenic dyskinesia (PKD) is questionable. In this study, we investigated the clinical characteristics of PKD patients with PRRT2 mutations. METHODS: Familial and sporadic PKD patients were enrolled and PRRT2 gene sequencing was performed. Demographic and clinical data were compared between PKD patients with and without a PRRT2 mutation. RESULTS: Among the enrolled PKD patients (8 patients from 5 PKD families and 19 sporadic patients), PRRT2 mutations were detected in 3 PKD families (60%) and 2 sporadic cases (10.5%). All familial patients with a PRRT2 gene mutation had the c.649dupC mutation, which is the most commonly reported mutation. Two uncommon mutations (c.649delC and c.629dupC) were detected only in the sporadic cases. PKD patients with PRRT2 mutation were younger at symptom onset and had more non-dyskinetic symptoms than those without PRRT2 mutation. However, the characteristics of dyskinetic movement did not differ between the two groups. CONCLUSIONS: This is the first study of PRRT2 mutations in Korea. The presence of a PRRT2 mutation was more strongly related to familial PKD, and was clinically related with earlier age of onset and common non-dyskinetic symptoms in PKD patients.
Age of Onset ; Chorea ; Dyskinesias* ; Dystonia ; Humans ; Korea ; Phenotype

Neurological complications associated with 2009 H1N1 infection in children have been reported and recognized worldwide. The most commonly reported neurological complications are seizures and encephalopathy. Secondary movement disorders are also associated with the infection, but such cases are rarely reported. Here, we describe the case of a 14-year-old boy with paroxysmal kinesigenic dyskinesia secondary to 2009 H1N1 infection, who presented with dystonia and choreic movement triggered by sudden voluntary movement.
Child ; Chorea ; Dyskinesias ; Dystonia ; Humans ; Influenza A virus ; Movement Disorders ; Seizures

OBJECTIVES: To present a case of anti NMDA receptor encephalitis in an adolescent male; to report a case of anti-NMDA receptor encephalitis who showed a rapid response to methylprednisone.
INTRODUCTION: Anti NMDA receptor encephalitis is an inflammatory encephalopathic autoimmune disease frequently affecting young women with teratomas of the ovary. It is also observed in men, children, and females without tumors.
THE CASE: A case of a 14 year adolescent right handed male adolescent presented with fever, hypertension , psychiatric symptom ,aphasia and orofacial dyskinesia. On admission he was highly febrile with dysautonomia, rigidity, catatonia and prominent orofacial dyskinesia. Upper motor signs include hyperreflexia and bilateral clonus. He latter developed Ileus, bladder and bowel incontinence, seizures, chorea, dystonia and dIe orofacial dyskinesia worsened. EEG showed continuous background slowing, Cranial MRI was normal and CSF analysis showed pleocytosis with lymphatic predominance with a normal protein and sugar. Work up for Herpes and Japanese B encephalitis was negative. Work up for tumor was negative. After 5 days of methylprednisone a rapid improvement was noted with resolution catatonia, rigidity hypereflexia and clonus. Results of the anti NMDA receptor antibodies showed positive for anti NMDA receptor encephalitis.
DISCUSSION: Anti NMDA receptor encephalitis presents with fever, headache,or malaise, followed mood and behavioral changes, psychiatric symptoms, decline of level of consciousness, hypoventilation and hyperkinesias. Immunotherapy is the current treatment. In patients with underlying tumor, immunotherapy, enhanced the effectiveness and speed of recovery. In patients without a tumour an additional treatment with second-line immunotherapy is needed but was not noted in this case. The patient showed a rapid recovery after methylprednisone and after 4 months post immunotherapy there was no recurrence of symptoms.
CONCLUSION: Anti NMDA receptor encephalitis is an inflammatory encephalopathic autoimmune disease and can be seen in children without tumors. Behavioral and hyperkinesias are prominent symptoms. Treatment with methylprednisone showed a good response.

Human ; Male ; Adolescent ; Anti-n-methyl-d-aspartate Receptor Encephalitis ; Catatonia ; Chorea ; Dyskinesias ; Dystonia ; Electroencephalography ; Encephalitis, Japanese ; Hashimoto Disease ; Hyperkinesis ; Leukocytosis ; Primary Dysautonomias ; Receptors, N-methyl-d-aspartate

Cerebellar degeneration is a group of diseases that manifests as progressive ataxia, that finally led to death without specific treatment. We report here two patients with cerebellar degeneration, who had shown an improvement and less progressive course, which is associated with panax ginseng intake. Patient 1 was a 60-year-old woman with multisystem atrophy (MSA) type C with 5 year history of ginseng ingestion. Patient 2 was a 54-year-old woman with spinocerebellar ataxia (SCA) type 6, who had a history of ginseng intake for 30 months. Both the patients showed atrophic change in the cerebellum by brain magnetic resonance imaging. Cerebellar functions had been semi-quantified by International Cooperative Ataxia Rating Scale (ICARS) and monitored before and after the ginseng ingestion every 6 to 12 months. In Patient 1 with MSA type C, ICARS had improved from 21 to 17.5 ± 1.8 in the following 5 years. In Patient 2 with SCA, ICARS also showed an improvement from 22 to 6.0 ± 1.0 over 30 months. However, when she stopped taking ginseng, it progressed up to 13 points in two years. These observations provide a potential disease-modifying effect of ginseng on patients with cerebellar degeneration.
Cerebellar Ataxia ; Cerebellar Diseases

BACKGROUND: To define the pathophysiology of paroxysmal kinesigenic dyskinesia(PKD), we analyzed detailed clin-ical features. METHODS: We studied characteristics of the attack, family history, response to the treatment and clinical courses of 30 patients with PKD. RESULTS: Twenty-six of the 30 patients were men and four were women. Thirteen patients had a family history of PKD. There were no patients who had symptomatic PKD. In three-fourths of our patients, the attacks ameliorated within 10 seconds and two-thirds experienced one to ten attacks per day. They showed dystonia much more frequently than chorea. In all patients,sudden movements of the legs while standing precipitated the attacks. The attack occurred very rarely during driving or swimming. Sudden movements of the arm did not precipi-tate the attacks. CONCLUSIONS: We suggest that neuronal system maintaining standing posture and strong afferent inputs delivering sudden high velocity movements of the legs to the spinal cord are involved in the genesis of PKD.
Arm ; Chorea ; Dyskinesias* ; Dystonia ; Female ; Humans ; Leg ; Male ; Neurons ; Posture ; Spinal Cord ; Swimming