608 results on '"Chorea physiopathology"'
Search Results
52. Huntington's Disease and Employment: The Relative Contributions of Cognitive and Motor Decline to the Decision to Leave Work.
- Author
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Watkins K, Purks J, Kumar A, Sokas RK, Heller H, and Anderson KE
- Subjects
- Adult, Age of Onset, Behavioral Symptoms, Chorea physiopathology, Cognitive Dysfunction psychology, Disability Evaluation, Disease Progression, Female, Humans, Huntington Disease psychology, Linear Models, Male, Middle Aged, Young Adult, Cognitive Dysfunction physiopathology, Decision Making, Employment, Huntington Disease physiopathology, Retirement
- Abstract
Background: Huntington's disease (HD) presents with motor, cognitive, and behavioral symptoms that impair functional capacity and the ability to maintain employment. The relative contribution of cognitive decline to work disability remains controversial., Objective: To evaluate the association of cognitive decline, compared with motor decline, with the decision to leave work., Methods: Data from the Enroll-HD observational study were analyzed. The correlation of age of cognitive symptom onset and age of motor symptom onset with age at leaving work was assessed. The association of the Stroop Color Naming Test (SCNT) cognitive assessment and the Total Motor Score (TMS) assessment (reverse scored) with the Total Functional Capacity (TFC) assessment was also assessed., Results: For every year delay in cognitive symptom onset, there was a 0.806 year increase in age at leaving work (SE = 0.030, p < 0.001, adj-R2 = 0.628). For every year delay of motor symptom onset, there was a 0.814 year increase in age at leaving work (SE = 0.031, p < 0.001, adj-R2 = 0.603). For every additional correct SCNT response given and for every unit increase in TMS, there was a 0.105 unit increase (SE = 0.006, p < 0.001, adj-R2 = 0.315) and a 0.104 unit decrease in TFC (SE = 0.003, p < 0.001, adj-R2 = 0.640), respectively., Conclusions: Cognitive symptoms have a significant association, comparable to that of motor symptoms, with occupational functioning and the decision to leave work, suggesting that development of therapies for both cognitive and motor decline would be important for allowing people with HD to remain in the workforce longer.
- Published
- 2018
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53. Late-onset choreoathetotic syndrome following heart surgery in adults with end-stage renal disease.
- Author
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Hamzi MA, Hassani K, and El Kabbaj D
- Subjects
- Adult, Aged, Chorea diagnosis, Chorea physiopathology, Coronary Stenosis complications, Female, Humans, Kidney Failure, Chronic diagnosis, Male, Mitral Valve Stenosis complications, Mitral Valve Stenosis diagnostic imaging, Risk Factors, Syndrome, Treatment Outcome, Cardiopulmonary Bypass adverse effects, Chorea etiology, Coronary Artery Bypass adverse effects, Coronary Stenosis diagnostic imaging, Coronary Stenosis surgery, Heart Valve Prosthesis Implantation adverse effects, Kidney Failure, Chronic complications, Mitral Valve Stenosis surgery
- Abstract
Choreoathetotic syndrome is a rare complication of open cardiac surgery that is seen usually in children after surgery for congenital cardiac anomalies. Here, we report two cases of adult patients with end-stage renal disease (ESRD) on regular hemodialysis who developed acute choreoathetotic syndrome few days after cardiac surgeries under cardiopulmonary bypass (CPB). Improvement was seen after an interval with complete resolution in one case. Investigations of the cause have been noncontributory. Long CPB time seems to be the main identified risk factor in these cases. One of the unusual features of our adult cases was the existence of ESRD. To the best of our knowledge, this is the first time this complication is described in association with ESRD although the role of this comorbidity in these cases is uncertain., Competing Interests: None declared.
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- 2018
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54. [Paroxysmal dyskinesias - disorder categories, their causes and treatment].
- Author
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Gontarz M, Papuć E, and Rejdak K
- Subjects
- Anticonvulsants therapeutic use, Benzodiazepines therapeutic use, Humans, Chorea drug therapy, Chorea etiology, Chorea physiopathology
- Abstract
Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden movement, stress, emotions, coffee or alcohol may be the trigger factors. Acute seizures are characterized by short duration and are self-limitated. Patients present correct portray of movements between seizures. Intact consciousness during seizure is the invariable characteristic of all paroxysmal dyskinesias. The intent of this work is to systematize knowledge about paroxysmal dyskinesias. This research includes synthetic information developed based on specialistic literature cencerned with paroxysmal movement disorders. The authors focused primarily on characteristics of the most important issues in this area, into which types of disorders, their causes and treament as well as psychopathology aspect having crucial influence on patients' life comfort were included. The essence of three categories of seizures were put across more extesively: paroxysmal kinesigenic dyskinesia, proxysmal non-kinesigenic dyskinesia and paroxysmal exercise-induced dyskinesia. Primary dyskinesias with genetic basis and secondary to other diseases, such as multiple sclerosis were distinguished. Modes of pharmacological treatment with antiepileptic drug and benzodiazepines were described. Special concern was put on holistic approach to problem of diagnosis and treatment of analyzed movement disorders.
- Published
- 2018
55. Sertraline-induced Hemichorea.
- Author
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Gatto EM, Aldinio V, Parisi V, Persi G, Da Prat G, Bullrich MB, Sanchez P, and Rojas G
- Subjects
- Aged, Chorea diagnostic imaging, Chorea physiopathology, Depressive Disorder diagnostic imaging, Depressive Disorder drug therapy, Depressive Disorder physiopathology, Diagnosis, Differential, Dyskinesia, Drug-Induced diagnostic imaging, Dyskinesia, Drug-Induced physiopathology, Dyskinesias diagnostic imaging, Dyskinesias physiopathology, Female, Humans, Selective Serotonin Reuptake Inhibitors therapeutic use, Sertraline therapeutic use, Chorea etiology, Dyskinesia, Drug-Induced etiology, Dyskinesias etiology, Selective Serotonin Reuptake Inhibitors adverse effects, Sertraline adverse effects
- Abstract
Background: Hemichorea-hemiballism is a syndrome secondary to different etiologies. Drug-induced hemichorea is a rare syndrome related to selective serotonin reuptake inhibitors. To the best of our knowledge, no previous cases of hemichorea associated with sertraline have been reported., Case Report: A 65-year-old female noticed hemichorea 1 week after initiation of sertraline. After extensive investigations, other causes of hemichorea were excluded. Hemichorea remitted after sertraline withdrawal., Discussion: In our patient, temporal association and the negative clinical assessment supported a diagnosis of likely drug-induced involuntary movement. We hypothesized that enhanced serotonergic transmission in the ventral tegmental area or nigrostriatum may be involved in sertraline-induced hemichorea., Competing Interests: Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.
- Published
- 2017
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56. Chorea Minor Associated with Anti-Neurochondrin Autoantibodies.
- Author
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Rommel FR, Miske R, Stöcker W, Arneth B, Neubauer BA, and Hahn A
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- Biomarkers blood, Child, Diagnosis, Differential, Female, HEK293 Cells, Humans, Nerve Tissue Proteins genetics, Autoantibodies blood, Chorea physiopathology, Chorea therapy, Nerve Tissue Proteins immunology
- Abstract
Competing Interests: Conflict of Interest: None.
- Published
- 2017
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57. Diabetic Hemichorea-hemiballism after Prompt Improvement in Hyperglycemia.
- Author
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Kitagawa M, Yamanaka Y, Adachi T, Ito J, Fukase K, Ohta I, and Katagiri T
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- Chorea physiopathology, Cyclohexanes therapeutic use, Glycated Hemoglobin, Humans, Hyperglycemia drug therapy, Hypoglycemic Agents therapeutic use, Linagliptin therapeutic use, Lower Extremity pathology, Magnetic Resonance Imaging methods, Male, Middle Aged, Nateglinide, Phenylalanine analogs & derivatives, Phenylalanine therapeutic use, Diabetes Complications physiopathology, Dyskinesias physiopathology, Hyperglycemia physiopathology
- Abstract
We herein report a case of hemichorea-hemiballism in an 85-year-old man diagnosed with diabetes at 76 years of age. After a one-year interruption in treatment, he was treated with a low-calorie diet, linagliptin, and nateglinide. Over 51 days, his HbA1c level decreased from 15.8% to 7.7%. After a prompt improvement in his hyperglycemia, he began experiencing involuntary movements in the right upper and lower extremities. T1-weighted magnetic resonance imaging showed a high signal intensity in the left lens nucleus. The patient was diagnosed with diabetic hemichorea-hemiballism and received haloperidol (1 mg/day) as treatment.
- Published
- 2017
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58. Deutetrabenazine: A Review in Chorea Associated with Huntington's Disease.
- Author
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Heo YA and Scott LJ
- Subjects
- Administration, Oral, Chorea physiopathology, Drug Interactions, Humans, Huntington Disease physiopathology, Tetrabenazine adverse effects, Tetrabenazine therapeutic use, Chorea drug therapy, Huntington Disease drug therapy, Tetrabenazine analogs & derivatives, Vesicular Monoamine Transport Proteins antagonists & inhibitors
- Abstract
Oral deutetrabenazine (Austedo™), a reversible inhibitor of vesicular monoamine transporter type 2 (VMAT2) that is structurally related to tetrabenazine is approved for the treatment of chorea symptoms associated with Huntington's disease (HD). In the pivotal 12-week phase III FIRST-HD trial (n = 90), deutetrabenazine, at doses titrated for optimal chorea control and tolerability (maintenance dosage range 12-48 mg/day), was significantly more effective for controlling chorea in HD patients than placebo. In the ongoing phase III ARC-HD trial, a preliminary analysis demonstrated that deutetrabenazine treatment was associated with improvements in chorea control at 54 weeks in patients who had completed FIRST-HD (i.e. ≤ 66 weeks' treatment; rollover cohort) or switched overnight from tetrabenazine to deutetrabenazine. The tolerability profile of deutetrabenazine is similar to that of placebo, with most treatment-emergent adverse events of mild or moderate severity. In both trials, with the exception of somnolence, individual neuropsychiatric adverse events typically occurred in < 7% of deutetrabenazine recipients; in FIRST-HD, there was no significant difference in the incidence of individual neuropsychiatric events between the deutetrabenazine and placebo groups. The favourable pharmacokinetic (PK) profile of deutetrabenazine permits a lower dosage than tetrabenazine, thereby potentially improving the safety profile of deutetrabenazine versus tetrabenazine, whilst maintaining its efficacy. Long-term clinical experience will assist in fully defining the safety profile of deutetrabenazine. Current evidence, albeit relatively limited, indicates that deutetrabenazine provides an effective and potentially better tolerated option than tetrabenazine for controlling chorea symptoms associated with HD.
- Published
- 2017
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59. The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate.
- Author
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Gauquelin L, Tran LT, Chouinard S, and Bernard G
- Subjects
- Athetosis genetics, Child, Chorea genetics, Congenital Hypothyroidism genetics, Female, Humans, Respiratory Distress Syndrome, Newborn genetics, Thyroid Nuclear Factor 1 genetics, Athetosis drug therapy, Athetosis physiopathology, Central Nervous System Stimulants therapeutic use, Chorea drug therapy, Chorea physiopathology, Congenital Hypothyroidism drug therapy, Congenital Hypothyroidism physiopathology, Methylphenidate therapeutic use, Respiratory Distress Syndrome, Newborn drug therapy, Respiratory Distress Syndrome, Newborn physiopathology
- Abstract
Competing Interests: Funding: This study was supported by a grant from the Réseau de Médecine Génétique Appliquée of the Fonds de recherche du Québec en Santé (FRQS). Conflicts of interest: The authors declare no conflict of interest. Ethics Statement: All patients that appear on video have provided written informed consent; authorization for the videotaping and for publication of the videotape was provided.
- Published
- 2017
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60. Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.
- Author
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Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappatà S, and De Michele G
- Subjects
- Adult, Brain diagnostic imaging, Brain drug effects, Chorea diagnostic imaging, Chorea pathology, Chorea physiopathology, Electroencephalography, Fluorodeoxyglucose F18 pharmacokinetics, Humans, Male, Middle Aged, Neuroacanthocytosis genetics, Neuroacanthocytosis physiopathology, Positron-Emission Tomography, Tropanes pharmacokinetics, Neuroacanthocytosis diagnostic imaging, Phenotype
- Published
- 2017
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61. [Exceptionally good response to sodium valproate in patients with recurrent Sydenham's chorea].
- Author
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Bouchal S, Ouali O, and Belahsen MF
- Subjects
- Adolescent, Chorea physiopathology, Female, Follow-Up Studies, Haloperidol therapeutic use, Humans, Recurrence, Rheumatic Fever prevention & control, Treatment Outcome, Anticonvulsants therapeutic use, Chorea drug therapy, Valproic Acid therapeutic use
- Abstract
Sydenham's chorea is the most common acquired cause of chorea in the third world. We report a case of recurrent chorea successfully treated with sodium valproate. Miss A.C, aged 16, with a history of recurrent angina reported an episode of choreic movements 2 years before requiring treatment with haloperidol and prevention of rheumatic fever. The patient interrupted her treatment with occurrence of a relapse a few months later. Brain MRI and transthoracic ultrasound were normal. Preventive treatment with extencilline and haloperidol was restarted without any improvement, hence the treatment with sodium valproate. The patient responded very well after 2 months of treatment, without recurrence at 3 years' follow-up. The treatment of Sydenham's chorea was based on neuroleptics. Recent studies advocate the use of other more effective and better tolerated molecules.
- Published
- 2017
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62. Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.
- Author
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Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, and Bäumer T
- Subjects
- Adult, Chorea genetics, Electromyography methods, Facial Muscles physiopathology, Female, Humans, Male, Middle Aged, Mutation, Myoclonus diagnosis, Myoclonus genetics, Myokymia diagnosis, Adenylyl Cyclases genetics, Chorea physiopathology, Myoclonus physiopathology, Myokymia genetics
- Abstract
Objective: A clinical feature in patients with ADCY5 gene mutations are perioral muscle twitches initially described as facial myokymia., Methods: Five patients with ADCY5-associated disease with facial twitches and truncal jerks underwent electrophysiological investigations of the orbicularis oris and trapezius muscles to delineate neurophysiological characteristics of these phenomena., Results: Electromyography (EMG) recordings showed a complex electrophysiological pattern with brief bursts of less than 100 ms and longer bursts with a duration of 100-300 ms up to several seconds in keeping with myoclonus and chorea, respectively, as key findings. None of the patients had EMG patterns of myokymia., Conclusions: In this series of five ADCY5 mutation carriers, perioral twitches and truncal jerks do not represent myokymia. In view of characteristic clinical signs and electrophysiological patterns with a combination of myoclonus and chorea it might be preferable to refer to these phenomena as myoclonus-chorea., (Copyright © 2017 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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63. Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.
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Carré G, Marelli C, Anheim M, Geny C, Renaud M, Rezvani HR, Koenig M, Guissart C, and Tranchant C
- Subjects
- Adult, Aged, Brain diagnostic imaging, Cerebellar Ataxia diagnostic imaging, Cerebellar Ataxia genetics, Cerebellar Ataxia physiopathology, Chorea diagnostic imaging, Chorea genetics, Chorea physiopathology, DNA-Binding Proteins genetics, Diagnosis, Differential, Female, Humans, Male, White People genetics, Xeroderma Pigmentosum diagnostic imaging, Xeroderma Pigmentosum genetics, Xeroderma Pigmentosum physiopathology, Cerebellar Ataxia etiology, Chorea etiology, Xeroderma Pigmentosum complications
- Abstract
The complementation group F of Xeroderma pigmentosum (XP-F) is rare in the Caucasian population, and usually devoid of neurological symptoms. We report two cases, both Caucasian, who exhibited progressive cerebellar ataxia, chorea, a mild subcortical frontal cognitive impairment, and in one case severe polyneuropathy. Brain MRI demonstrated cerebellar (2/2) and cortical (1/2) atrophy. Both patients had only mild sunburn sensitivity and no skin cancer. Mini-exome sequencing approach revealed in ERCC4, two heterozygous mutations, one of which was never described (c.580-584+1delCCAAGG, exon 3), in the first case, and an already reported homozygous mutation, in the second case. These cases emphasize that XP-F is a rare cause of recessive cerebellar ataxia and can in some cases clinically mimic Huntington's disease due to chorea and executive impairment. The association of ataxia, chorea, and sun hypersensitivity are major guidance for the diagnosis, which should not be missed, in order to prevent skin neoplastic complications., (Copyright © 2017 Elsevier B.V. All rights reserved.)
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- 2017
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64. Hemichorea-hemiballismus in the setting of posterolateral putaminal lesion and treatment with topiramate.
- Author
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Onder H
- Subjects
- Brain diagnostic imaging, Brain Ischemia complications, Brain Ischemia diagnostic imaging, Chorea complications, Chorea diagnostic imaging, Chorea physiopathology, Dyskinesias complications, Dyskinesias diagnostic imaging, Dyskinesias physiopathology, Female, Fructose therapeutic use, Humans, Middle Aged, Stroke complications, Stroke diagnostic imaging, Topiramate, Anticonvulsants therapeutic use, Chorea drug therapy, Dyskinesias drug therapy, Fructose analogs & derivatives
- Published
- 2017
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65. GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.
- Author
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Arya R, Spaeth C, Gilbert DL, Leach JL, and Holland KD
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- Atrophy pathology, Child, Preschool, Chorea physiopathology, Developmental Disabilities physiopathology, Humans, Male, Mutation, Phenotype, Chorea genetics, Developmental Disabilities genetics, GTP-Binding Protein alpha Subunits, Gi-Go genetics, Seizures genetics, Seizures pathology, Seizures physiopathology
- Abstract
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures. Genetic testing found a de novo pathogenic variant in the GNAO1 gene (c.607G>A; p.Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1 gene. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on www.epilepticdisorders.com].
- Published
- 2017
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66. The relationship of dystonia and choreoathetosis with activity, participation and quality of life in children and youth with dyskinetic cerebral palsy.
- Author
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Monbaliu E, De Cock P, Mailleux L, Dan B, and Feys H
- Subjects
- Adolescent, Athetosis physiopathology, Athetosis psychology, Cerebral Palsy complications, Child, Chorea physiopathology, Chorea psychology, Cross-Sectional Studies, Dystonia physiopathology, Dystonia psychology, Exercise physiology, Female, Humans, Male, Severity of Illness Index, Social Participation psychology, Surveys and Questionnaires, Young Adult, Athetosis complications, Cerebral Palsy physiopathology, Cerebral Palsy psychology, Chorea complications, Dystonia complications, Quality of Life
- Abstract
Aim: To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP)., Methods: Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (r
s ) was used to assess the relationship between the movement disorders and activity, participation and QOL measures., Results: Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (rs ) varying between -0.65 (95% CI = -0.78 to -0.46) and -0.71 (95% CI = -0,82 to -0.55). Correlations were also found with the LIFE-H (rs = -0.43; 95%CI = -0.64 to -0.17) and the CP-QOL (rs = -0.32; 95%CI = -0.56 to -0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales., Interpretation: This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis., (Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)- Published
- 2017
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67. Huntington's Disease like 2 presenting with isolated Parkinsonism.
- Author
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Vasconcellos LFR, Macêdo PJOM, Franck JB, Tumas V, Marques Júnior W, and Spitz M
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- Adult, Black People genetics, Chorea genetics, Chorea physiopathology, Cognition Disorders genetics, Cognition Disorders physiopathology, Dementia genetics, Dementia physiopathology, Diagnosis, Differential, Heredodegenerative Disorders, Nervous System genetics, Heredodegenerative Disorders, Nervous System physiopathology, Humans, Male, Parkinsonian Disorders genetics, Parkinsonian Disorders physiopathology, Pedigree, Phenotype, Chorea complications, Chorea diagnosis, Cognition Disorders complications, Cognition Disorders diagnosis, Dementia complications, Dementia diagnosis, Heredodegenerative Disorders, Nervous System complications, Heredodegenerative Disorders, Nervous System diagnosis, Parkinsonian Disorders diagnosis, Parkinsonian Disorders etiology
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- 2017
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68. A Systematic Review of the Huntington Disease-Like 2 Phenotype.
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Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, and Krause A
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- Chorea diagnostic imaging, Cognition Disorders diagnostic imaging, Dementia diagnostic imaging, Heredodegenerative Disorders, Nervous System diagnostic imaging, Humans, Huntington Disease diagnostic imaging, Huntington Disease genetics, Huntington Disease physiopathology, Phenotype, Chorea genetics, Chorea physiopathology, Cognition Disorders genetics, Cognition Disorders physiopathology, Dementia genetics, Dementia physiopathology, Heredodegenerative Disorders, Nervous System genetics, Heredodegenerative Disorders, Nervous System physiopathology
- Abstract
Background: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2., Objective: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases., Methods: A literature review of all clinically described cases of HDL2 until the end of 2016 was performed and a descriptive analysis was carried out., Results: Sixty-nine new cases were described between 2001 and 2016. All cases had likely African ancestry, and most were found in South Africa and the USA. Many features were found to be similar to HD, including a strong negative correlation between repeat length and age of onset. Chorea was noted in 48/57 cases (84%). Dementia was reported in 74% patients, and Parkinsonism in 37%. Psychiatric features were reported in 44 out of 47 cases. Patients with chorea had lower expanded repeat lengths compared to patients without chorea. Eye movements were described in 19 cases, 8 were abnormal. Acanthocytes were detected in 4 of the 13 patients tested. Nineteen out of 20 MRIs were reported as abnormal with findings similar to HD., Conclusion: This review clarifies some aspects of the HDL2 phenotype and highlights others which require further investigation. Features that are unique to HDL2 have been documented in a minority of subjects and require prospective validation.
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- 2017
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69. Bilateral globus pallidus internus deep brain stimulation for dyskinetic cerebral palsy supports success of cochlear implantation in a 5-year old ex-24 week preterm twin with absent cerebellar hemispheres.
- Author
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Lin JP, Kaminska M, Perides S, Gimeno H, Baker L, Lumsden DE, Britz A, Driver S, Fitzgerald-O'Connor A, and Selway R
- Subjects
- Cerebral Palsy physiopathology, Child, Child, Preschool, Chorea physiopathology, Cochlear Implantation rehabilitation, Combined Modality Therapy, Deafness physiopathology, Diseases in Twins physiopathology, Dystonia physiopathology, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Infant, Premature, Diseases physiopathology, Male, Treatment Outcome, Athetosis rehabilitation, Cerebellum abnormalities, Cerebral Palsy rehabilitation, Chorea rehabilitation, Cochlear Implantation instrumentation, Deafness rehabilitation, Deep Brain Stimulation instrumentation, Diseases in Twins rehabilitation, Dystonia rehabilitation, Globus Pallidus physiopathology, Infant, Premature, Diseases rehabilitation
- Abstract
Background: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success., Methods: We describe the importance of the order of dual neuromodulation surgery for dystonia and deafness. First with bilateral GPi DBS using a rechargeable ACTIVA-RC neurostimulator followed 5 months later by unilateral CI with a Harmony (BTE) Advanced Bionics Hi Res 90 K cochlear device. This double neuromodulation was performed in series in a 12.5 kg 5 year-old ex-24 week gestation-born twin without a cerebellum., Results: Relief of dyskinesia enabled continuous use of the CI amplifier. Language understanding and communication improved. Dystonic storms abated. Tolerance of sitting increased with emergence of manual function. Status dystonicus ensued 10 days after ACTIVA-RC removal for infection-erosion at 3 years and 10 months. He required intensive care and DBS re-implantation 3 weeks later together with 8 months of hospital care. Today he is virtually back to the level of functioning before the DBS removal in 2012 and background medication continues to be slowly weaned., Conclusion: This case illustrates that early neuromodulation with DBS for dystonic cerebral palsy followed by CI for deafness is beneficial. Both should be considered early i.e. under the age of five years. The DBS should precede the CI to maximise dystonia reduction and thus benefits from CI. This requires close working between the paediatric DBS and CI services., (Copyright © 2016. Published by Elsevier Ltd.)
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- 2017
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70. Hemichorea improvement following endarterectomy for internal carotid artery stenosis.
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Noda K, Ishimoto R, Hattori N, Okuma Y, and Yamamoto T
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- Aged, Brain diagnostic imaging, Brain surgery, Carotid Artery, Internal diagnostic imaging, Carotid Stenosis diagnostic imaging, Carotid Stenosis physiopathology, Chorea diagnostic imaging, Chorea drug therapy, Chorea physiopathology, Functional Laterality, Humans, Male, Carotid Artery, Internal surgery, Carotid Stenosis surgery, Chorea surgery, Endarterectomy, Carotid
- Published
- 2016
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71. Abnormal eye movements in three types of chorea.
- Author
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Attoni T, Beato R, Pinto S, and Cardoso F
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- Basal Ganglia physiopathology, Female, Humans, Male, Chorea physiopathology, Huntington Disease physiopathology, Neuroacanthocytosis physiopathology, Saccades physiology
- Abstract
Chorea is an abnormal movement characterized by a continuous flow of random muscle contractions. This phenomenon has several causes, such as infectious and degenerative processes. Chorea results from basal ganglia dysfunction. As the control of the eye movements is related to the basal ganglia, it is expected, therefore, that is altered in diseases related to chorea. Sydenham's chorea, Huntington's disease and neuroacanthocytosis are described in this review as basal ganglia illnesses that can present with abnormal eye movements. Ocular changes resulting from dysfunction of the basal ganglia are apparent in saccade tasks, slow pursuit, setting a target and anti-saccade tasks. The purpose of this article is to review the main characteristics of eye motion in these three forms of chorea.
- Published
- 2016
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72. Paroxysmal dyskinesia on waking: two case reports.
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Guo Q, Yang Y, Lin Y, Li L, Zhan S, Liu A, Gao L, Lin H, and Wang Y
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- Adult, Chorea drug therapy, Humans, Male, Middle Aged, Polysomnography, Sleep physiology, Wakefulness physiology, Chorea diagnosis, Chorea physiopathology
- Published
- 2016
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73. Movement disorders and stroke.
- Author
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Defebvre L and Krystkowiak P
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- Chorea diagnosis, Chorea etiology, Chorea physiopathology, Chorea therapy, Dyskinesias diagnosis, Dyskinesias etiology, Dyskinesias physiopathology, Dyskinesias therapy, Dystonia diagnosis, Dystonia etiology, Dystonia therapy, Humans, Movement Disorders diagnosis, Movement Disorders therapy, Myoclonus diagnosis, Myoclonus etiology, Myoclonus physiopathology, Myoclonus therapy, Parkinson Disease, Secondary diagnosis, Parkinson Disease, Secondary etiology, Parkinson Disease, Secondary therapy, Prognosis, Stroke diagnosis, Stroke physiopathology, Stroke therapy, Movement Disorders etiology, Stroke complications
- Abstract
Stroke may be associated with different types of movement disorders, such as hyperkinetic syndromes (hemichorea-hemiballism, unilateral asterixis, limb-shaking, dystonia, tremor, myoclonus) and hypokinetic syndromes (especially vascular parkinsonism). However, movement disorders are rare and transient in acute stroke and, as a permanent consequence, are more often delayed. While ischemic and hemorrhagic strokes can happen at any level of the frontal-subcortical motor system, they can be explained most of the time by a dysfunction in the basal ganglia motor circuit. However, only brain MRI allows the involved structure(s) to be precisely located, and each syndrome is specific to the type of lesion. Treatment is above all symptomatic. Only limb-shaking syndrome requires urgent surgical treatment because of the low-perfusion hemodynamic state. The functional prognosis depends on the type of movement disorder., (Copyright © 2016. Published by Elsevier Masson SAS.)
- Published
- 2016
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74. Chorea.
- Author
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Mestre TA
- Subjects
- C9orf72 Protein genetics, Chorea genetics, Chorea physiopathology, Humans, Mutation genetics, Chorea diagnosis
- Abstract
Purpose of Review: This article reviews the clinical approach to the diagnosis of adult patients presenting with chorea, using Huntington disease (HD) as a point of reference, and presents the clinical elements that help in the diagnostic workup. Principles of management for chorea and some of the associated features of other choreic syndromes are also described., Recent Findings: Mutations in the C9orf72 gene, previously identified in families with a history of frontotemporal dementia, amyotrophic lateral sclerosis, or both, have been recognized as one of the most prevalent causes of HD phenocopies in the white population., Summary: The diagnosis of chorea in adult patients is challenging. A varied number of associated causes require a physician to prioritize the investigations, and a detailed history of chorea and associated findings will help. For chorea presenting as part of a neurodegenerative syndrome, the consideration of a mutation in the C9orf72 gene is a new recommendation after excluding HD. There are no new treatment options for chorea, aside from dopamine blockers and tetrabenazine. There are no disease-modifying treatments for HD or other neurodegenerative choreic syndromes.
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- 2016
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75. Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.
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Saini AG, Sankhyan N, and Singhi P
- Subjects
- Aminopeptidases genetics, Brain diagnostic imaging, Child, Preschool, Chorea drug therapy, Chorea genetics, Diagnosis, Differential, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases genetics, Female, Humans, Neuronal Ceroid-Lipofuscinoses drug therapy, Neuronal Ceroid-Lipofuscinoses genetics, Phenotype, Serine Proteases genetics, Tripeptidyl-Peptidase 1, Chorea diagnosis, Chorea physiopathology, Neuronal Ceroid-Lipofuscinoses diagnosis, Neuronal Ceroid-Lipofuscinoses physiopathology
- Abstract
Purpose: Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children., Methods: A four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic-clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep., Results: Magnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years., Conclusions: The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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76. Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.
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Navein AE, Cooke EJ, Davies JR, Smith TG, Wells LH, Ohazama A, Healy C, Sharpe PT, Evans SL, Evans BA, Votruba M, and Wells T
- Subjects
- Animals, Brain growth & development, Brain physiopathology, Chorea physiopathology, Disease Models, Animal, Head growth & development, Head physiopathology, Humans, Mandible growth & development, Mandible physiopathology, Metabolism, Inborn Errors physiopathology, Mice, Mitochondria pathology, Mutation, Missense, Optic Atrophy physiopathology, Retina growth & development, Retina physiopathology, Skeleton growth & development, Skeleton physiopathology, Spastic Paraplegia, Hereditary physiopathology, Tooth growth & development, Tooth physiopathology, Bone Development genetics, Chorea genetics, Metabolism, Inborn Errors genetics, Mitochondria genetics, Optic Atrophy genetics, Proteins genetics, Spastic Paraplegia, Hereditary genetics
- Abstract
Mitochondrial dysfunction connects metabolic disturbance with numerous pathologies, but the significance of mitochondrial activity in bone remains unclear. We have, therefore, characterized the skeletal phenotype in the Opa3
L122P mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein, Opa3, impairs mitochondrial activity resulting in visual and metabolic dysfunction. Although widely expressed in the developing normal mouse head, Opa3 expression was restricted after E14.5 to the retina, brain, teeth and mandibular bone. Opa3 was also expressed in adult tibiae, including at the trabecular surfaces and in cortical osteocytes, epiphyseal chondrocytes, marrow adipocytes and mesenchymal stem cell rosettes. Opa3L122P mice displayed craniofacial abnormalities, including undergrowth of the lower mandible, accompanied in some individuals by cranial asymmetry and incisor malocclusion. Opa3L122P mice showed an 8-fold elevation in tibial marrow adiposity, due largely to increased adipogenesis. In addition, femoral length and cortical diameter and wall thickness were reduced, the weakening of the calcified tissue and the geometric component of strength reducing overall cortical strength in Opa3L122P mice by 65%. In lumbar vertebrae reduced vertebral body area and wall thickness were accompanied by a proportionate reduction in marrow adiposity. Although the total biomechanical strength of lumbar vertebrae was reduced by 35%, the strength of the calcified tissue (σmax ) was proportionate to a 38% increase in trabecular number. Thus, mitochondrial function is important for the development and maintenance of skeletal integrity, impaired bone growth and strength, particularly in limb bones, representing a significant new feature of the Costeff syndrome phenotype., (© The Author 2016. Published by Oxford University Press.)- Published
- 2016
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77. Network localization of hemichorea-hemiballismus.
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Laganiere S, Boes AD, and Fox MD
- Subjects
- Adult, Aged, Aged, 80 and over, Case-Control Studies, Chorea diagnostic imaging, Chorea physiopathology, Connectome, Dyskinesias diagnostic imaging, Dyskinesias physiopathology, Female, Functional Laterality, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neural Pathways diagnostic imaging, Neural Pathways physiopathology, Reproducibility of Results, Rest, Sensitivity and Specificity, Stroke diagnostic imaging, Stroke physiopathology, Young Adult, Brain diagnostic imaging, Brain physiopathology, Chorea etiology, Dyskinesias etiology, Stroke complications
- Abstract
Objective: To determine whether neuroanatomically heterogeneous strokes causing hemichorea-hemiballismus localize to a common functional network., Methods: We identified 29 cases of lesion-induced hemichorea-hemiballismus from the literature and mapped each lesion volume onto a reference brain. Using a recently validated technique termed lesion network mapping, we tested whether these lesions belonged to the same functional network. To accomplish this, the network of brain regions functionally connected to each lesion was identified using a connectome dataset from healthy participants. Network maps were overlapped to identify any region functionally connected to our set of lesions. Specificity was evaluated using a case-control design; control cohorts included a group of similar lesions randomized to different brain locations and a second group of lesions causing a separate movement disorder, asterixis. Reproducibility was evaluated using an independent cohort of 10 additional hemichorea-hemiballismus cases., Results: Lesions showed heterogeneity in anatomical location, consistent with prior reports. However, at least 90% of these lesions showed network overlap in the posterolateral putamen. This result was specific to lesions causing hemichorea-hemiballismus and reproducible in an independent cohort. The putaminal overlap site was itself connected to a broader motor network that predicted the distribution of lesions causing hemichorea-hemiballismus., Conclusions: Strokes causing hemichorea-hemiballismus, while anatomically heterogeneous, localize to a common functional network. Specifically, lesions occur in regions functionally connected to the posterolateral putamen, a region previously implicated in hyperkinetic movement disorders. Lesion network mapping may be useful in identifying the neuroanatomical substrates of heterogeneous lesion-based disorders., (© 2016 American Academy of Neurology.)
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- 2016
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78. Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.
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Kawakami I, Kobayashi Z, Arai T, Yokota O, Nonaka T, Aoki N, Niizato K, Oshima K, Higashi S, Katsuse O, Hosokawa M, Hasegawa M, and Akiyama H
- Subjects
- Adult, Aged, Female, Humans, Inclusion Bodies metabolism, Male, Middle Aged, Neurologic Examination, Brain pathology, Chorea physiopathology, Frontotemporal Lobar Degeneration metabolism, Frontotemporal Lobar Degeneration pathology, Inclusion Bodies pathology, RNA-Binding Protein FUS metabolism
- Abstract
Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. We determined the behavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed the clinical records of 72 FTLD cases, and clarified additional clinical features that are predictive of the BIBD pathology. Symptom onset in the three patients with chorea was at 44.0 years of age (±12.0 years), and occurred in the absence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, as well as reduced neurological muscle tone in addition to chorea. The three patients showed no or mild parkinsonism, which by contrast, increased substantially in the other FTLD cases until a later stage of disease. The three patients exhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUS from FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature of choreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.
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- 2016
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79. [Hemichorea with Contralateral High Signal Intensity Putaminal Lesion on T1-Weighted Images in Non-Ketotic Hyperglycemia].
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Achilles EI, Maus V, Fink GR, Maintz D, van Eimeren T, and Mpotsaris A
- Subjects
- Aspartic Acid analogs & derivatives, Aspartic Acid metabolism, Choline metabolism, Creatine metabolism, Female, Glycated Hemoglobin metabolism, Humans, Magnetic Resonance Spectroscopy, Middle Aged, Chorea diagnostic imaging, Chorea physiopathology, Diabetes Complications diagnostic imaging, Diabetes Complications physiopathology, Diabetes Mellitus, Type 2 diagnostic imaging, Diabetes Mellitus, Type 2 physiopathology, Diffusion Magnetic Resonance Imaging, Dominance, Cerebral physiology, Hyperglycinemia, Nonketotic diagnostic imaging, Hyperglycinemia, Nonketotic physiopathology, Putamen diagnostic imaging, Putamen physiopathology
- Abstract
A 64-year-old diabetic female patient presented with involuntary unilateral hyperkinetic movements of the left limbs. Cranial MRI showed a contralateral high signal intensity putaminal lesion on T1-weighted images without any signal changes in the T2-weighted images. This finding is characteristic for hemichorea-hemiballism associated with insufficiently treated diabetes mellitus. Additionally, proton MR spectroscopy was performed and revealed a decreased N-acetylaspartate/creatine and N-acetylaspartate/choline ratio, indicating neuronal damage of the contralateral putamen., (© Georg Thieme Verlag KG Stuttgart · New York.)
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- 2016
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80. Is postoperative encephalopathy with choreoathetosis an acquired form of neuroacanthocytosis?
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Popkirov S, Schlegel U, and Skodda S
- Subjects
- Brain Diseases etiology, Humans, Models, Biological, Brain Diseases physiopathology, Cardiopulmonary Bypass adverse effects, Chorea etiology, Chorea physiopathology, Neuroacanthocytosis etiology, Neuroacanthocytosis physiopathology
- Abstract
Postoperative encephalopathy with choreoathetosis ("postpump chorea") is a rare complication of open-heart surgery and, in particular, the employment of a cardiopulmonary bypass pump. It almost exclusively occurs in young children. While risk factors and the underlying histopathology have been identified, the pathogenesis of postpump chorea, crucially, remains largely unknown. Transient cerebral hypoperfusion associated with cardiopulmonary bypass is considered a likely candidate mechanism, but the evidence is insufficient and inconclusive. It is hypothesized in this article, that postpump chorea may be caused by mechanical trauma to red blood cells and resulting acanthocytosis. These dysfunctional erythrocytes could then lead to damage to the globus pallidus and disease development akin to that presumed in neuroacanthocytosis. In patients with neuroacanthocytosis an association between acanthocytosis and basal ganglia pathology has been suggested. To test the mechanism hypothesized here, the effects of cardiopulmonary bypass on erythrocyte morphology and function could be systematically tested in children undergoing cardiac surgery. Ideally, the extent of erythrocyte damage could be correlated with the risk of developing postpump chorea. Finally, if the proposed hypothesis is supported by empirical findings, efforts to reduce blood cell damage during extracorporeal circulation in children might prevent this devastating complication., (Copyright © 2016 Elsevier Ltd. All rights reserved.)
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- 2016
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81. Successful treatment of Sydenham's chorea with intravenous immunoglobulin.
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Boersma NA, Schippers H, Kuijpers T, and Heidema J
- Subjects
- Child, Chorea physiopathology, Disease Progression, Female, Haloperidol therapeutic use, Humans, Severity of Illness Index, Treatment Outcome, Valproic Acid therapeutic use, Anti-Bacterial Agents therapeutic use, Chorea drug therapy, Immunoglobulins, Intravenous therapeutic use, Immunologic Factors therapeutic use
- Abstract
We present a case of a 10-year-old girl diagnosed with Sydenham's chorea. Despite treatment with haloperidol and valproic acid for 2 weeks and antibiotics for 5 days, her symptoms continued to worsen. She became severely impaired in daily functioning, as she could barely speak or walk, experienced major feeding difficulties and required help with all daily activities. She was treated with intravenous immunoglobulin (IVIG). Within 4 days, her symptoms started to improve and after 1-month she had fully recovered. This case reminds us that Sydenham's chorea can result in major functional impairment. There is some evidence on the beneficial effect of IVIG in the treatment of Sydenham's chorea, as is evident in our case. Therefore, IVIG should be considered as a treatment option in patients with severe chorea., (2016 BMJ Publishing Group Ltd.)
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- 2016
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82. The quest for patterns in dyskinetic cerebral palsy.
- Author
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Himmelmann K
- Subjects
- Female, Humans, Male, Athetosis physiopathology, Cerebral Palsy physiopathology, Chorea physiopathology, Dystonia physiopathology
- Published
- 2016
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83. Clinical patterns of dystonia and choreoathetosis in participants with dyskinetic cerebral palsy.
- Author
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Monbaliu E, de Cock P, Ortibus E, Heyrman L, Klingels K, and Feys H
- Subjects
- Adolescent, Adult, Athetosis epidemiology, Athetosis etiology, Basal Ganglia Diseases pathology, Cerebral Palsy complications, Cerebral Palsy epidemiology, Child, Chorea epidemiology, Chorea etiology, Cross-Sectional Studies, Dystonia epidemiology, Dystonia etiology, Female, Humans, Male, Severity of Illness Index, Thalamus pathology, Young Adult, Athetosis physiopathology, Cerebral Palsy physiopathology, Chorea physiopathology, Dystonia physiopathology
- Abstract
Aim: The aim of the study was to map clinical patterns of dystonia and choreoathetosis and to assess the relation between functional classifications and basal ganglia and thalamus lesions in participants with dyskinetic cerebral palsy (CP)., Methods: In this cross-sectional study, 55 participants with dyskinetic CP (mean age 14y 6mo, SD 4y 1mo; range 6-22y) were assessed with the Dyskinesia Impairment Scale and classified with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS)., Results: Dystonia and choreoathetosis are simultaneously present. Median levels of dystonia (70.2%) were significantly higher than levels of choreoathetosis (26.7%) and both were significantly higher during activity than at rest (both p<0.01). High correlations were found between dystonia levels and GMFCS level (Spearman's rank correlation coefficient, rS =0.70; 95% confidence interval [CI] 0.53-0.81; p<0.01) and MACS (rS =0.65; 95% CI 0.47-0.81; p<0.01), and fair correlation with CFCS (rs =0.36; 95% CI=0.11-0.57; p<0.05). No significant correlation was found between choreoathetosis levels and motor classifications. Finally, higher choreoathetosis levels were found in participants with pure thalamus and basal ganglia lesions (p=0.03) than mixed lesions, but not for dystonia (p=0.41)., Interpretation: Dystonia and choreoathetosis increase during activity. However, dystonia predominates and seems to have a larger impact on functional abilities. Our findings further suggest that choreoathetosis seems to be more linked to pure thalamus and basal ganglia lesions than dystonia., (© 2015 Mac Keith Press.)
- Published
- 2016
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84. A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea.
- Author
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Park H, Jeon BS, Shin JH, and Park SH
- Subjects
- Amantadine therapeutic use, Antiparkinson Agents therapeutic use, Benzothiazoles therapeutic use, Brain diagnostic imaging, Chorea diagnostic imaging, Chorea drug therapy, Humans, Levodopa therapeutic use, Male, Middle Aged, Parkinsonian Disorders diagnostic imaging, Parkinsonian Disorders drug therapy, Positron-Emission Tomography, Pramipexole, Spinocerebellar Ataxias diagnostic imaging, Spinocerebellar Ataxias drug therapy, Spinocerebellar Ataxias genetics, TATA-Box Binding Protein genetics, Trinucleotide Repeats, Chorea physiopathology, Parkinsonian Disorders physiopathology, Spinocerebellar Ataxias physiopathology
- Published
- 2016
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85. Neuropsychiatric manifestations of Sydenham's chorea: a systematic review.
- Author
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Punukollu M, Mushet N, Linney M, Hennessy C, and Morton M
- Subjects
- Adult, Child, Chorea epidemiology, Humans, Mental Disorders epidemiology, Chorea physiopathology, Comorbidity, Mental Disorders physiopathology
- Abstract
Aim: Sydenham's chorea is a post-streptococcal, autoimmune, neuropsychiatric movement disorder. Sydenham's chorea is a major criterion for diagnosis of acute rheumatic fever with the implication of potential long-term sequelae including cardiac complications. It is well established that there is psychiatric comorbidity in Sydenham's chorea, but there are variations in the literature regarding the nature and prevalence of psychiatric diagnoses associated with Sydenham's chorea. The aim of this review was to systematically evaluate the evidence for psychiatric symptoms presenting with Sydenham's chorea. Knowledge of comorbid psychiatric symptomatology will support early diagnosis and treatment, leading to improved long-term outcomes for children with Sydenham's chorea., Method: The study used a systematic search strategy, using MEDLINE, MEDLINE in Process, EMBASE, and The Cochrane Library. Abstracts were screened to identify relevant papers which were then assessed further. Eligible papers were summarized., Results: A total of 1429 abstracts of relevant studies were found, and 49 papers reporting neuropsychiatric symptoms in Sydenham's chorea were summarized. Obsessive-compulsive disorder was the most commonly studied, and hence reported, neuropsychiatric symptom in children with Sydenham's chorea. The studies analysed used a variety of tools to identify affected children and used different methods for analysing results. Attention-deficit-hyperactivity disorder, affective disorders, tic disorders, executive function disturbances, and psychotic features were also reported as comorbidities., Interpretation: There is good evidence of neuropsychiatric comorbidities in Sydenham's chorea. In countries with a high prevalence of rheumatic fever, the early recognition of salient cognitive and psychiatric symptoms may aid in the management of Sydenham's chorea., (© 2015 Mac Keith Press.)
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- 2016
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86. Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).
- Author
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Hirabayashi S, Saitsu H, and Matsumoto N
- Subjects
- Brain pathology, Child, Chorea pathology, DNA Mutational Analysis, Exome, Female, Humans, Magnetic Resonance Imaging, Male, Siblings, Chorea genetics, Chorea physiopathology, Heterozygote, Mediator Complex genetics, Mutation, Phenotype
- Abstract
Two siblings born to non-consanguineous parents showed nystagmus and sudden opistotonic posturing from the early infancy, and subsequent developmental delay and marked choreiform movements with hypotonia in the childhood. The brother had a mild postnatal microcephaly. Brain MRI of the sister showed mild delay of myelination, dilated anterior horn and mild cerebellar atrophy. Whole exome sequencing (WES) revealed compound heterozygous mutations in MED17 gene in both siblings: c.1013-5A>G and c.1484T>G mutations transmitted from their father and mother, respectively. The c.1013-5A>G mutation caused insertion of 4 bases of intron 6 in the transcript, resulting in frameshift (p. Ser338Asnfs*15), and mutant transcript underwent nonsense-mediated mRNA decay in lymphoblastoid cells derived from two siblings. The c.1484T>G mutation substituted a leucine residue, which is highly conserved among the vertebrates, and was predicted to be damaging by in silico analysis programs. Both mutations were not registered in dbSNP data and in our 575 control exomes. These results suggest that the siblings' mutations are likely to be pathogenic. This is the second case report concerning MED17 mutations. Compared with the first reported cases of Caucasian Jewish origin, the clinical symptoms and courses are much milder and slower, respectively, in our cases. Genotype difference (a homozygous mutation versus compound heterozygous mutations) might explain these clinical differences between two cases, though early-onset nystagmus and later choreiform movements were unique in our cases. Clinical spectrum and phenotype-genotype correlations in this rare mutation should be further elucidated., (Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
- Published
- 2016
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87. Sydenham's chorea: beyond involuntary movements.
- Author
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Teixeira AL
- Subjects
- Humans, Chorea physiopathology, Comorbidity, Mental Disorders physiopathology
- Published
- 2016
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88. Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.
- Author
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Huang XJ, Wang T, Wang JL, Liu XL, Che XQ, Li J, Mao X, Zhang M, Bi GH, Wu L, Zhang Y, Wang JY, Shen JY, Tang BS, Cao L, and Chen SD
- Subjects
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Chorea etiology, Chorea physiopathology, Dystonia complications, Dystonia etiology, Dystonia physiopathology, Female, Genetic Association Studies, Homozygote, Humans, Infant, Male, Mutation, Severity of Illness Index, Time Factors, Uniparental Disomy, Young Adult, Chorea genetics, Dystonia genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics
- Abstract
Objective: We aimed to investigate the clinical and genetic features of paroxysmal kinesigenic dyskinesia (PKD) in a large population and to analyze the genotype-phenotype correlation of PKD., Methods: We analyzed clinical manifestations and conducted PRRT2 screening in 110 patients with PKD. Clinical data were compared between 91 probands with and without PRRT2 mutations., Results: Among the enrolled participants (45 from 26 families, 65 sporadic cases), 8 PRRT2 mutations were detected in 20 PKD families (76.9%) and 14 sporadic cases (21.5%), accounting for 37.4% (34/91) of the study population. Five mutations (c.649dupC, c.649delC, c.487C>T, c.573dupT, c.796C>T) were already reported, while 3 mutations (c.787C>T, c.797G>A, c.931C>T) were undocumented. A patient harboring a homozygous c.931C>T mutation was shown to have inherited the mutation via uniparental disomy. Compared with non-PRRT2 mutation carriers, the PRRT2 mutation carriers were younger at onset, experienced longer attacks, and tended to present with complicated PKD, combined phenotypes of dystonia and chorea, and a positive family history. A good response was shown in 98.4% of the patients prescribed with carbamazepine., Conclusions: PRRT2 mutations are common in patients with PKD and are significantly associated with an earlier age at onset, longer duration of attacks, a complicated form of PKD, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD. A patient with uniparental disomy resulting in a homozygous c.931C>T mutation is identified in the present study. Carbamazepine is the first-choice drug for patients with PKD, but an individualized treatment regimen should be developed., (© 2015 American Academy of Neurology.)
- Published
- 2015
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89. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
- Author
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Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, Lerman-Sagie T, and Zerem A
- Subjects
- Basal Ganglia Diseases etiology, Child, Preschool, Chorea diagnosis, Chorea genetics, Consanguinity, Electroencephalography, Female, Glutarates urine, Humans, Jews, Metabolism, Inborn Errors diagnosis, Metabolism, Inborn Errors genetics, Muscle Spasticity etiology, Optic Atrophy diagnosis, Optic Atrophy genetics, Proteins genetics, Seizures etiology, Sleep, Spastic Paraplegia, Hereditary diagnosis, Spastic Paraplegia, Hereditary genetics, Chorea physiopathology, Metabolism, Inborn Errors physiopathology, Optic Atrophy physiopathology, Psychomotor Agitation etiology, Spastic Paraplegia, Hereditary physiopathology, Status Epilepticus etiology
- Abstract
Background: Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and spasticity. Costeff syndrome is prevalent among Iraqi Jews., Methods: We describe a 5 year old girl from Syrian Jewish origin with an atypical presentation of Costeff syndrome., Results: The patient presented with asymmetric optic atrophy, severe dystonia and choreoathetosis and global developmental regression at the age of 7 months; no achievement of independent walking and only minimal speech; and appearance of electrical status epilepticus during slow wave sleep in the second year of life with further deterioration. She harbors the classic mutation (c.143-1G > C) in the OPA3 gene., Conclusion: Costeff syndrome may present in an atypical manner regarding the ethnic origin, clinical manifestations and co-occurrence of epilepsy. Mutations in OPA3 should be evaluated in all cases presenting with the core features of typical Costeff syndrome., (Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2015
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90. Language Impairment in Adolescents With Sydenham Chorea.
- Author
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Harsányi E, Moreira J, Kummer A, Meira ZM, Cardoso F, and Teixeira AL
- Subjects
- Adolescent, Child, Chorea physiopathology, Comprehension, Cross-Sectional Studies, Female, Humans, Language Tests, Male, Motor Activity, Rheumatic Fever physiopathology, Rheumatic Fever psychology, Severity of Illness Index, Speech, Chorea psychology, Language Disorders physiopathology
- Abstract
Background: Neuropsychiatric comorbidities are frequent in Sydenham chorea. However, cognitive impairment in Sydenham chorea has not been sufficiently described. The objective of this study was to evaluate expressive and receptive language deficits in adolescents with Sydenham chorea., Methods: Twenty patients with Sydenham chorea were compared with 20 patients with rheumatic fever without chorea and 20 healthy controls. Participants were matched for age and gender. Participants were assessed with verbal fluency tasks (phonemic and semantic) and with verbal comprehension tasks (Token Test). Patients with Sydenham chorea were also assessed with the Universidade Federal de Minas Gerais Sydenham Chorea Rating Scale., Results: Performance in verbal fluency and in verbal comprehension tasks differed significantly (P < 0.01) among the three groups. Patients with Sydenham chorea performed significantly worse than healthy control group in phonemic and semantic verbal fluency tasks as well as in the Token Test. The group with rheumatic fever also performed worse than healthy controls in phonemic verbal fluency. Severity of motor signs in Sydenham chorea inversely correlated with performance in phonemic verbal fluency (words beginning with letter S, and total sum of words beginning with letters F, A, and S)., Conclusions: Adolescents with Sydenham chorea show difficulties in verbal fluency and in verbal comprehension. Patients with rheumatic fever also have some degree of language impairment. Future studies must investigate language impairment in difference stages of Sydenham chorea (acute, persistent, and remission) and putative biological markers., (Copyright © 2015 Elsevier Inc. All rights reserved.)
- Published
- 2015
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91. Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.
- Author
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Teive HA, Moscovich M, Moro A, Farah M, Arruda WO, and Munhoz RP
- Subjects
- Age of Onset, Aged, Aged, 80 and over, Atrophy, Brazil, Cerebellum pathology, Chorea pathology, Chorea physiopathology, Cognitive Dysfunction pathology, Cognitive Dysfunction physiopathology, Electromyography, Female, Gait Ataxia pathology, Humans, Magnetic Resonance Imaging, Male, Mental Status Schedule, Spinocerebellar Degenerations pathology, Gait Ataxia physiopathology, Spinocerebellar Degenerations physiopathology
- Abstract
Unlabelled: The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy., Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly patients were diagnosed as probable very late onset cerebellar ataxia. These patients were evaluated with neurological, ophthalmologic and Mini-Mental Status examinations, brain MRI, and EMG., Results: 62.5% of patients were males, mean age was 81.9 years-old, and mean age of onset was 75.5 years. Gait cerebellar ataxia was observed in all patients, as well as, cerebellar atrophy on brain MRI. Mild cognitive impairment and visual loss, due to macular degeneration, were observed in 50% of cases. Chorea was concomitantly found in 3 patients., Conclusion: We believe that this condition is similar the one described by Marie-Foix-Alajouanine presenting with mild dysarthria, associated with gait ataxia, and some patients had cognitive dysfunction and chorea.
- Published
- 2015
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92. Hemichorea-Hemiballismus as the First Sign of Type 1b Diabetes During Adolescence and Its Recurrence in the Setting of Infection.
- Author
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Aquino JH, Spitz M, and Pereira JS
- Subjects
- Adolescent, Anti-Bacterial Agents adverse effects, Anti-Bacterial Agents therapeutic use, Brain pathology, Chorea diagnosis, Chorea drug therapy, Chorea pathology, Diabetes Mellitus, Type 1 diagnosis, Diabetes Mellitus, Type 1 drug therapy, Diabetes Mellitus, Type 1 pathology, Diagnosis, Differential, Dyskinesias diagnosis, Dyskinesias drug therapy, Dyskinesias pathology, Female, Focal Infection drug therapy, Focal Infection physiopathology, Humans, Magnetic Resonance Imaging, Nail Diseases drug therapy, Nail Diseases physiopathology, Recurrence, Tomography, X-Ray Computed, Chorea physiopathology, Diabetes Mellitus, Type 1 physiopathology, Dyskinesias physiopathology
- Abstract
Chorea may be secondary to hyperosmolar nonketotic hyperglycemia, but such situation has rarely been described in adolescents, particularly as the initial and single manifestation of type 1 diabetes. We describe a case of a previously healthy 14-year-old girl with sudden onset of choreic movements on her left upper and lower limbs. Brain computed tomography (CT) and magnetic resonance imaging (MRI) revealed an area of hyperdensity/hyperintensity affecting the right striatum. Blood glucose was 349 mg/dL. Despite adequate glucose control, the involuntary movements persisted and haloperidol, later substituted with valproate, was prescribed, with satisfactory but not complete resolution of the chorea. In 2 other occasions, when the patient had an infection and subsequent hyperglycemia, the chorea relapsed. Although not common, hyperglycemia must be considered in the differential diagnosis of acute hemichorea-hemiballismus in children and adolescents, particularly because it is a potentially reversible cause., (© The Author(s) 2014.)
- Published
- 2015
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- View/download PDF
93. Post-infectious autoimmune disorders: Sydenham's chorea, PANDAS and beyond.
- Author
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Williams KA and Swedo SE
- Subjects
- Adolescent, Adult, Aged, Autoimmune Diseases drug therapy, Autoimmune Diseases of the Nervous System drug therapy, Autoimmune Diseases of the Nervous System pathology, Autoimmune Diseases of the Nervous System physiopathology, Brain pathology, Brain physiopathology, Child, Chorea drug therapy, Female, Humans, Male, Middle Aged, Obsessive-Compulsive Disorder, Streptococcal Infections drug therapy, Young Adult, Autoimmune Diseases pathology, Autoimmune Diseases physiopathology, Chorea pathology, Chorea physiopathology, Streptococcal Infections pathology, Streptococcal Infections physiopathology
- Abstract
Infections, and the resulting immune response to these infections, have recently received increased recognition as pathogenic mechanisms for neuropsychiatric disorders. Sydenham's chorea (SC), a widely recognized post-streptococcal autoimmune disorder, represents a model for this proposed pathogenesis. In SC, a dysregulated immune response to a streptococcal infection is hypothesized to result in inflammation of neuronal networks, particularly the basal ganglia nuclei. The resulting dysfunction in the basal ganglia nuclei are hypothesized to lead to a constellation of adventitious movements and psychiatric symptoms, which investigations have shown are amenable to immunomodulatory therapies. PANDAS (Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal infections) has been proposed as a variant of SC, and is hypothesized to share a pathogenic mechanism, despite a unique symptom profile of predominantly psychiatric symptoms. In this review, we present the clinical aspects of both disorders, the data for potential shared etiopathogenesis between them, and the evidence for the therapeutic use of immunomodulatory therapies for the symptoms of SC and PANDAS. This article is part of a Special Issue entitled SI: Neuroimmunology in Health And Disease., (Copyright © 2014 Elsevier B.V. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
94. Neuropathophysiology of paroxysmal, systemic, and other related movement disorders.
- Author
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Hao SS, Feng YH, Zhang GB, Wang AP, Wang F, and Wang P
- Subjects
- Animals, Chorea complications, Chorea diagnosis, Chorea physiopathology, Humans, Movement Disorders complications, Phenotype, Sleep physiology, Movement Disorders diagnosis, Movement Disorders physiopathology
- Abstract
Movement disorders are neurological conditions affecting the ability to produce and control voluntary as well as involuntary movements, and may be categorized into akinetic/rigid and hyperkinetic disorders. The hyperkinetic disorders are generally perceived as being the most difficult to diagnose correctly. They are manifested by excessive, abnormal involuntary movements, and are referred to as dyskinesias. The conditions are further designated paroxysmal dyskinesias when the abnormal movements occur episodically, followed by a rapid return to normality without impaired consciousness between episodes. The events can be precipitated by sudden voluntary movements, or may occur spontaneously at rest, or precipitated by exertion or sleep. Most conditions are either inherited or sporadic, and some cases are associated with specific conditions. Although clinical scenarios can be confusing, considerable advances in the phenotype characterisation and genetic studies have provided important information that allowed simplifying the clinical definitions and diagnosis of the paroxysmal dyskinesias. These advances have helped understand the pathophysiology of these disorders and their variants.
- Published
- 2015
95. Echogenicity of basal ganglia structures in different Huntington's disease phenotypes.
- Author
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Saft C, Hoffmann R, Strassburger-Krogias K, Lücke T, Meves SH, Ellrichmann G, and Krogias C
- Subjects
- Adolescent, Adult, Age of Onset, Aged, Chorea classification, Chorea diagnostic imaging, Chorea genetics, Chorea physiopathology, Female, Humans, Huntington Disease genetics, Huntington Disease physiopathology, Hypokinesia classification, Hypokinesia diagnostic imaging, Hypokinesia genetics, Hypokinesia physiopathology, Male, Middle Aged, Phenotype, Severity of Illness Index, Ultrasonography, Young Adult, Basal Ganglia diagnostic imaging, Huntington Disease classification, Huntington Disease diagnostic imaging
- Abstract
In Huntington's disease (HD), a neurodegenerative-inherited disease, chorea as the typical kind of movement disorder is described. Beside chorea, however, all other kinds of movement disturbances, such as bradykinesia, dystonia, tremor or myoclonus can occur. Aim of the current study was to investigate alterations in the echogenicity of basal ganglia structures in different Huntington's disease phenotypes. 47 patients with manifest and genetically confirmed HD were recruited. All participants underwent a thorough neurological examination. According to a previously described method, classification into predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes was performed depending on subscores of the Unified Huntington's Disease Rating Scale. In addition, findings in juvenile HD were compared to adult HD. Transcranial sonography was performed by investigators blinded to clinical classification. There were no significant differences in basal ganglia echogenicities between the three phenotypes. Size of echogenic area of substantia nigra (SN) correlated positively with CAG repeat and bradykinesia subscore, and negatively with age of onset and chorea subscore. Comparing juvenile and adult HD subtypes, SN hyperechogenicity was significantly more often detectable in the juvenile form (100 vs. 29.3 %, p = 0.002). Regarding echogenicity of caudate or lentiform nuclei, no significant differences were detected. HD patients with the juvenile variant exhibit marked hyperechogenicity of substantia nigra. No significant differences in basal ganglia echogenicities between predominantly choreatic, mixed or bradykinetic-rigid motor phenotypes were detected.
- Published
- 2015
- Full Text
- View/download PDF
96. Deep brain stimulation in Huntington's disease: assessment of potential targets.
- Author
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Sharma M and Deogaonkar M
- Subjects
- Animals, Brain physiology, Chorea diagnosis, Chorea physiopathology, Chorea therapy, Globus Pallidus physiology, Humans, Huntington Disease physiopathology, Deep Brain Stimulation methods, Huntington Disease diagnosis, Huntington Disease therapy
- Abstract
Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder that has very few effective therapeutic interventions. Since the disease has a defined neural circuitry abnormality, neuromodulation could be an option. Case reports, original research, and animal model studies were selected from the databases of Medline and PubMed. All related studies published up to July 2014 were included in this review. The following search terms were used: "Deep brain stimulation," "DBS," "thalamotomy," "pallidal stimulation," and "Huntington's Disease," "HD," "chorea," or "hyperkinetic movement disorders." This review examines potential nodes in the HD circuitry that could be modulated using deep brain stimulation (DBS) therapy. With rapid evolution of imaging and ability to reach difficult targets in the brain with refined DBS technology, some phenotypes of HD could potentially be treated with DBS in the near future. Further clinical studies are warranted to validate the efficacy of neuromodulation and to determine the most optimal target for HD., (Copyright © 2014 Elsevier Ltd. All rights reserved.)
- Published
- 2015
- Full Text
- View/download PDF
97. Disabling myopathy with chorea and noncompaction.
- Author
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Finsterer J and Stöllberger C
- Subjects
- Aged, Diagnosis, Differential, Disability Evaluation, Echocardiography methods, Humans, Male, Neurologic Examination methods, Cardiomyopathy, Dilated complications, Cardiomyopathy, Dilated diagnosis, Cardiomyopathy, Dilated metabolism, Cardiomyopathy, Dilated physiopathology, Chorea complications, Chorea diagnosis, Chorea metabolism, Chorea physiopathology, Isolated Noncompaction of the Ventricular Myocardium complications, Isolated Noncompaction of the Ventricular Myocardium diagnosis, Isolated Noncompaction of the Ventricular Myocardium metabolism, Isolated Noncompaction of the Ventricular Myocardium physiopathology, Muscle Weakness diagnosis, Muscle Weakness etiology
- Published
- 2015
- Full Text
- View/download PDF
98. Where does chorea come from? cortical excitability findings challenge classic pathophysiological concepts.
- Author
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Hallett M and Obeso J
- Subjects
- Animals, Humans, Psychomotor Agitation genetics, Brain physiopathology, Chorea genetics, Chorea physiopathology, Movement physiology
- Published
- 2015
- Full Text
- View/download PDF
99. Changes in motor cortical excitability in patients with Sydenham's chorea.
- Author
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Khedr EM, Ahmed MA, Ali AM, Badry R, and Rothwell JC
- Subjects
- Adolescent, Adult, Child, Chorea diagnosis, Female, Humans, Huntington Disease complications, Male, Psychomotor Agitation therapy, Transcranial Magnetic Stimulation methods, Young Adult, Chorea physiopathology, Chorea therapy, Evoked Potentials, Motor physiology, Motor Cortex physiopathology
- Abstract
Background and Purpose: The neurophysiological characteristics of motor cortex have been well characterized in patients with Huntington's disease. We present the first data on cortical excitability in patients with Sydenham's chorea., Methods: Motor cortex excitability was examined using transcranial magnetic stimulation in 16 patients in the early clinical stages of Sydenham's chorea and in 17 age- and sex-matched control subjects. Investigations included resting and active motor threshold, motor evoked potential, input-output curves, contralateral silent period, and transcallosal inhibition., Results: Resting and active motor threshold were significantly higher and motor evoked potentials were significantly smaller in patients in comparison with controls. The input-output curves were shallower in both hemispheres of patients with chorea compared with controls. No significant differences were seen in silent period or transcallosal inhibition duration., Conclusion: Sydenham's chorea is characterized by reduced excitability of corticospinal output similar to that observed in Huntington's disease., (© 2014 International Parkinson and Movement Disorder Society.)
- Published
- 2015
- Full Text
- View/download PDF
100. [A rare neurologic syndrome due to a common medical condition].
- Author
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Shtemer IS, Grinberg G, and Grossman E
- Subjects
- Aged, 80 and over, Basal Ganglia Diseases diagnosis, Basal Ganglia Diseases drug therapy, Blood Glucose metabolism, Chorea diagnosis, Chorea drug therapy, Female, Glycated Hemoglobin metabolism, Humans, Hyperglycemia diagnosis, Hyperglycemia drug therapy, Hypoglycemic Agents therapeutic use, Insulin therapeutic use, Syndrome, Tomography, X-Ray Computed, Basal Ganglia Diseases physiopathology, Chorea physiopathology, Hyperglycemia physiopathology
- Abstract
We describe a patient with hypertension, diabetes mellitus, recurrent strokes, congestive heart failure, chronic atrial fibrillation and renal failure,who was hospitalized twice for chorea. A thorough work-up excluded all common causes for chorea in the elderly. The patient's HbA1c was > 17% and the brain computerized tomography revealed dense lesions in the basal ganglia compatible with Chorea Hyperglycemia Basal Ganglia syndrome. This syndrome includes a combination of chorea, hyperglycemia and dense lesions in the basal ganglia. The hemichorea in this syndrome is provoked by non-ketotic hyperglycemia and improves with insulin treatment. The radiographic picture also improves after there is control of glucose levels and clinical improvement.
- Published
- 2015
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