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1.
Epilepsia ; 61(7): 1438-1452, 2020 07.
Article in English | MEDLINE | ID: mdl-32584424

ABSTRACT

OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Here, we aimed to (a) characterize activation profiles of the motor system during different cognitive tasks in patients with JME and their unaffected siblings, and (b) validate those as endophenotypes of JME. METHODS: This prospective cross-sectional investigation included 32 patients with JME, 12 unaffected siblings, and 26 controls, comparable for age, sex, handedness, language laterality, neuropsychological performance, and anxiety and depression scores. We investigated patterns of motor system activation during episodic memory encoding and verb generation functional magnetic resonance imaging (fMRI) tasks. RESULTS: During both tasks, patients and unaffected siblings showed increased activation of motor system areas compared to controls. Effects were more prominent during memory encoding, which entailed hand motion via joystick responses. Subgroup analyses identified stronger activation of the motor cortex in JME patients with ongoing seizures compared to seizure-free patients. Receiver-operating characteristic curves, based on measures of motor activation, accurately discriminated both patients with JME and their siblings from healthy controls (area under the curve: 0.75 and 0.77, for JME and a combined patient-sibling group against controls, respectively; P < .005). SIGNIFICANCE: Motor system hyperactivation represents a cognitive, domain-independent endophenotype of JME. We propose measures of motor system activation as quantitative traits for future genetic imaging studies in this syndrome.


Subject(s)
Cognition/physiology , Hyperkinesis/diagnostic imaging , Hyperkinesis/physiopathology , Myoclonic Epilepsy, Juvenile/diagnostic imaging , Myoclonic Epilepsy, Juvenile/physiopathology , Psychomotor Performance/physiology , Adolescent , Adult , Cross-Sectional Studies , Endophenotypes , Female , Humans , Hyperkinesis/psychology , Male , Middle Aged , Myoclonic Epilepsy, Juvenile/psychology , Prospective Studies , Young Adult
2.
Epilepsia ; 61(5): 1019-1026, 2020 05.
Article in English | MEDLINE | ID: mdl-32378738

ABSTRACT

OBJECTIVE: Hyperkinetic epileptic seizures (HKS) are difficult to characterize and localize according to semiologic features. We propose a multicriteria scale to help visual analysis and report results of cerebral localization. METHODS: We assessed seizures from 37 patients with HKS, explored with stereoelectroencephalography during presurgical evaluation. We used a multicriteria scale (hyperkinetic seizure scale [HSS]) with 10 semiologic features, scored independently by two neurologists. The item scores were used to group seizures using the k-means method. Semiologic features were correlated with the seizure onset zone (SOZ) localization (temporal, prefrontal dorsolateral, prefrontal ventromesial, parietal, insular). RESULTS: Fifty-five seizures were analyzed, and each item of the HSS was compared between the two examiners with good interrater agreement (85.3%). Dystonia, integrated behavior, and bilateral or unilateral hyperkinetic movements were statistically significant according to localization. Three clusters were identified according to the HSS and correlated with different patterns of anatomic localization of SOZ. Cluster 1 was characterized clinically by asymmetric hyperkinetic movements associated with marked dystonia and vocalization. It mainly included parietal seizures. Cluster 2 was characterized by bilateral and symmetrical stereotyped hyperkinetic movements without dystonia. It represented half of temporal seizures and one-third of prefrontal seizures (dorsolateral). Cluster 3 was characterized by seizures with strong emotionality and vocalization with bilateral and symmetrical hyperkinetic movements and integrated behavior. It involved half of temporal seizures and a majority of prefrontal (ventromesial) seizures. SIGNIFICANCE: We propose a first attempt to quantify clinical patterns of HKS. The HSS may help to predict SOZ localization according to three main groups of hyperkinetic seizures.


Subject(s)
Brain/physiopathology , Hyperkinesis/diagnosis , Seizures/diagnosis , Adolescent , Adult , Brain/diagnostic imaging , Child , Electroencephalography , Female , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/physiopathology , Magnetic Resonance Imaging , Male , Middle Aged , Neuroimaging , Seizures/diagnostic imaging , Seizures/physiopathology , Severity of Illness Index , Young Adult
3.
Neuroimage ; 190: 79-93, 2019 04 15.
Article in English | MEDLINE | ID: mdl-30465864

ABSTRACT

Parkinson's disease causes a characteristic combination of motor symptoms due to progressive neurodegeneration of dopaminergic neurons in the substantia nigra pars compacta. The core impairment of dopaminergic neurotransmission has motivated the use of functional magnetic resonance imaging (fMRI) in patients with Parkinson's disease to elucidate the role of dopamine in motor control and cognition in humans. Here we review the main insights from functional brain imaging in Parkinson's disease. Task-related fMRI revealed many disease-related alterations in brain activation patterns. However, the interpretation of these findings is complicated by the fact that task-dependent activity is influenced by complex interactions between the amount of dopaminergic neurodegeneration in the task-relevant nuclei, the state of medication, genetic factors and performance. Despite these ambiguities, fMRI studies in Parkinson's disease demonstrated a central role of dopamine in the generation of movement vigour (bradykinesia) and the control of excessive movements (dyskinesia), involving changes of both activity and connectivity of the putamen, premotor and motor regions, and right inferior frontal gyrus (rIFG). The fMRI studies addressing cognitive flexibility provided convergent evidence for a non-linear, U-shaped, relationship between dopamine levels and performance. The amount of neurodegeneration in the task-relevant dopaminergic nuclei and pharmacological dopamine replacement can therefore move performance either away or towards the task-specific optimum. Dopamine levels also strongly affect processing of reward and punishment for optimal learning. However, further studies are needed for a detailed understanding of the mechanisms underlying these effects.


Subject(s)
Cognitive Dysfunction , Dopamine/physiology , Executive Function/physiology , Hyperkinesis , Hypokinesia , Neuroimaging , Parkinson Disease , Reward , Cognitive Dysfunction/diagnostic imaging , Cognitive Dysfunction/etiology , Cognitive Dysfunction/metabolism , Cognitive Dysfunction/physiopathology , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/etiology , Hyperkinesis/metabolism , Hyperkinesis/physiopathology , Hypokinesia/diagnostic imaging , Hypokinesia/etiology , Hypokinesia/metabolism , Hypokinesia/physiopathology , Parkinson Disease/complications , Parkinson Disease/diagnostic imaging , Parkinson Disease/metabolism , Parkinson Disease/physiopathology
4.
Neurol India ; 66(Supplement): S131-S134, 2018.
Article in English | MEDLINE | ID: mdl-29503335

ABSTRACT

Seizures are followed by a post-ictal period, which is characterized by usual slowing of brain activity. This case report describes a 68-year old woman who presented with right-sided rhythmic, non-voluntary, semi-purposeful motor behavior that started 2 days after an episode of generalized seizure. Her initial electroencephalogram (EEG) showed beta activity with no evidence of epileptiform discharges. Computed tomography scan showed hypodensity in the left parieto-occipital region. Magnetic resonance imaging (MRI) showed restricted diffusion/fluid-attenuated inversion recovery hyperintensities in the left precentral and post-central gyrus. Unilateral compulsive motor behavior during the post-ictal state should be considered, and not confused with partial status epilepticus to avoid unnecessary treatment. Abnormal magnetic resonance imaging (MRI) findings, which are reversible, can help with the diagnostic and therapeutic approach.


Subject(s)
Brain/diagnostic imaging , Hyperkinesis/diagnostic imaging , Seizures/diagnostic imaging , Aged , Brain/physiopathology , Electroencephalography , Female , Humans , Hyperkinesis/physiopathology , Magnetic Resonance Imaging , Seizures/physiopathology
5.
Neuroimage Clin ; 37: 103302, 2023.
Article in English | MEDLINE | ID: mdl-36669351

ABSTRACT

BACKGROUND: Hyperkinetic movement disorders (HMD) manifest as abnormal and uncontrollable movements. Despite reported involvement of several neural circuits, exact connectivity profiles remain elusive. OBJECTIVES: Providing a comprehensive literature review of resting-state brain connectivity alterations using resting-state fMRI (rs-fMRI). We additionally discuss alterations from the perspective of brain networks, as well as correlations between connectivity and clinical measures. METHODS: A systematic review was performed according to PRISMA guidelines and searching PubMed until October 2022. Rs-fMRI studies addressing ataxia, chorea, dystonia, myoclonus, tics, tremor, and functional movement disorders (FMD) were included. The standardized mean difference was used to summarize findings per region in the Automated Anatomical Labeling atlas for each phenotype. Furthermore, the activation likelihood estimation meta-analytic method was used to analyze convergence of significant between-group differences per phenotype. Finally, we conducted hierarchical cluster analysis to provide additional insights into commonalities and differences across HMD phenotypes. RESULTS: Most articles concerned tremor (51), followed by dystonia (46), tics (19), chorea (12), myoclonus (11), FMD (11), and ataxia (8). Altered resting-state connectivity was found in several brain regions: in ataxia mainly cerebellar areas; for chorea, the caudate nucleus; for dystonia, sensorimotor and basal ganglia regions; for myoclonus, the thalamus and cingulate cortex; in tics, the basal ganglia, cerebellum, insula, and frontal cortex; for tremor, the cerebello-thalamo-cortical circuit; finally, in FMD, frontal, parietal, and cerebellar regions. Both decreased and increased connectivity were found for all HMD. Significant spatial convergence was found for dystonia, FMD, myoclonus, and tremor. Correlations between clinical measures and resting-state connectivity were frequently described. CONCLUSION: Key brain regions contributing to functional connectivity changes across HMD often overlap. Possible increases and decreases of functional connections of a specific region emphasize that HMD should be viewed as a network disorder. Despite the complex interplay of physiological and methodological factors, this review serves to gain insight in brain connectivity profiles across HMD phenotypes.


Subject(s)
Chorea , Dystonia , Dystonic Disorders , Myoclonus , Tics , Humans , Tremor , Magnetic Resonance Imaging , Hyperkinesis/diagnostic imaging , Brain/diagnostic imaging , Brain Mapping/methods , Ataxia , Neural Pathways
6.
Neurology ; 95(6): e637-e642, 2020 08 11.
Article in English | MEDLINE | ID: mdl-32636329

ABSTRACT

OBJECTIVE: To study neural networks involved in hyperkinetic seizures (HKS) using ictal SPECT. METHODS: We retrospectively identified 18 patients with HKS evaluated at the Cleveland Clinic between 2005 and 2015 with video-EEG monitoring and ictal SPECT. Semiology was confirmed by the consensus of 2 epileptologists' independent reviews and classified as type 1, 2, or 3 HKS. SPECT data were analyzed by 2 independent physicians using a z score of 1.5. Ictal hyperperfusion patterns for each group were analyzed visually and with SPM. Spatial normalization to Montreal Neurological Institute space for each patient's data was performed, followed by flipping of data from patients with left-sided ictal onset to the right side. Finally, an average z score map for each group was calculated. RESULTS: Visual analysis and SPM identified different patterns of ictal hyperperfusion in the 3 subtypes of HKS. Type 1 seizures showed hyperperfusion in a more anteriorly located network involving the anterior insula, orbitofrontal cortex, cingulate, and anterior perisylvian region and rostral midbrain. Type 2 seizures were associated with hyperperfusion in a more caudally located network involving the orbitofrontal cortex, cingulate (middle and posterior), basal ganglia, thalami, and cerebellum. Type 3 seizures showed a mixed pattern of SPECT hyperperfusion involving the temporal pole and anterior perisylvian region. CONCLUSIONS: Each of the 3 different semiologic subtypes of HKS is associated with distinct patterns of hyperperfusion, providing further insight into the neural networks involved. This knowledge may inform placement of invasive EEG electrodes in patients with HKS semiology undergoing presurgical evaluation.


Subject(s)
Epilepsy, Partial, Motor/diagnostic imaging , Hyperkinesis/diagnostic imaging , Nerve Net/diagnostic imaging , Tomography, Emission-Computed, Single-Photon/methods , Adolescent , Adult , Brain Mapping , Cerebrovascular Circulation , Child , Dominance, Cerebral , Electroencephalography/methods , Epilepsy, Partial, Motor/classification , Epilepsy, Partial, Motor/physiopathology , Female , Humans , Hyperkinesis/physiopathology , Male , Middle Aged , Nerve Net/physiopathology , Preoperative Care , Retrospective Studies , Video Recording/methods , Young Adult
7.
Parkinsonism Relat Disord ; 61: 19-25, 2019 04.
Article in English | MEDLINE | ID: mdl-30642806

ABSTRACT

GNAO1 variants were recently discovered as causes of epileptic encephalopathies and heterogeneous syndromes presenting with movement disorders (MDs), whose phenomenology and clinical course are yet undefined. We herein focused on GNAO1-related MD, providing an analytical review of existing data to outline the main MD phenomenology and management, clinical evolution and genotype-phenotype correlations. Reviewing 41 previously published patients and assessing 5 novel cases, a comprehensive cohort of 46 patients was analyzed, reassuming knowledge about genotypes, phenotypes, disease course and treatment of this condition. GNAO1-related MD consisted of a severe early-onset hyperkinetic syndrome, with prominent chorea, dystonia and orofacial dyskinesia. Symptoms are poorly responsive to medical therapy and fluctuate, with critical and life-threatening exacerbations, such as status dystonicus. The presence of a choreiform MD appears to be predictive of a higher risk of movement disorder emergency. Surgical treatments are sometimes effective, although severe disabilities persist. Differently from the early infantile epileptic encephalopathy phenotype (associated with loss of function variants), no clear correlation between genotype and MD phenotype emerged, although some variants recurred more frequently, mainly affecting exons 6 and 7.


Subject(s)
GTP-Binding Protein alpha Subunits, Gi-Go/genetics , Movement Disorders/physiopathology , Age of Onset , Brain/diagnostic imaging , Child, Preschool , Chorea/diagnostic imaging , Chorea/genetics , Chorea/physiopathology , Disease Progression , Dyskinesias/diagnostic imaging , Dyskinesias/genetics , Dyskinesias/physiopathology , Dystonia/diagnostic imaging , Dystonia/genetics , Dystonia/physiopathology , Emergencies , Epilepsy/diagnostic imaging , Epilepsy/genetics , Epilepsy/physiopathology , Genetic Association Studies , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/genetics , Hyperkinesis/physiopathology , Infant , Movement Disorders/diagnostic imaging , Movement Disorders/genetics
8.
Article in English | MEDLINE | ID: mdl-30647990

ABSTRACT

Background: Rarely, cardiac pacemaker implant can lead to the development of involuntary hyperkinetic movement disorders localized to the abdominal wall or the diaphragm. Phenomenology Shown: We report a case of a 79-year-old female who developed rhythmic continuous clonic right abdominal movements caused by cardiac pacemaker lead dislodgement. Educational Value: Our case highlights that, in the differential diagnosis of hyperkinetic abdominal movement disorder, the presence and the possible pathogenic role of a cardiac pacemaker should be kept in mind.


Subject(s)
Abdominal Muscles/diagnostic imaging , Equipment Failure , Heart/diagnostic imaging , Hyperkinesis/diagnostic imaging , Hyperkinesis/etiology , Pacemaker, Artificial/adverse effects , Aged , Female , Humans
9.
J Neurol Sci ; 391: 31-39, 2018 08 15.
Article in English | MEDLINE | ID: mdl-30103967

ABSTRACT

BACKGROUND: Exacerbation of hyperkinesia is a life-threatening complication of dyskinetic movement disorders, which can lead to multi-organ failure and even to death. GNAO1 has been recently identified to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. Patients with GNAO1 mutations can present with a severe, progressive hyperkinetic movement disorder with prolonged life-threatening exacerbations, which are refractory to most anti-dystonic medication. OBJECTIVE: The objective was to investigate the evolution of symptoms and the response to deep brain stimulation of the globus pallidus internus (GPi-DBS) in patients with different GNAO1 mutations. METHODS: We report six patients presenting with global motor retardation, reduced muscle tone and recurrent episodes of severe, life-threatening hyperkinesia with dystonia, choreoathetosis, and ballism since early childhood. Five of them underwent GPi-DBS. RESULTS: The genetic workup revealed mutations in GNAO1 for all six patients. These encompass a new splice site mutation (c.723+1G>T) in patient 1, a new missense mutation (c.610G>C; p.Gly204Arg) in patient 2, a heterozygous mutation (c.625>T; p.Arg209Cys) in patients 3 and 4, and a heterozygous mutation (c.709G>A; p.Glu237Lys) in patients 5 and 6. By intervention with GPi-DBS the severe paroxysmal hyperkinetic exacerbations could be stopped in five patients. One patient is still under evaluation for neuromodulation. CONCLUSION: In complex movement disorders of unsolved etiology clinical WES can rapidly streamline pathogenic genes. We identified two novel GNAO1 mutations. GPi-DBS can be an effective and life-saving treatment option for patients with GNAO1 mutations and has to be considered early.


Subject(s)
Deep Brain Stimulation , GTP-Binding Protein alpha Subunits, Gi-Go/genetics , Hyperkinesis/genetics , Hyperkinesis/therapy , Mutation , Child , Child, Preschool , Female , Globus Pallidus/diagnostic imaging , Humans , Hyperkinesis/diagnostic imaging , Infant , Male , Treatment Outcome
10.
Brain Dev ; 39(2): 161-165, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27596361

ABSTRACT

Deficiency of gamma-amino-butyrate aminotransferase (ABAT) is a rare inherited disorder. A six-month-old girl presented with hyper-somnolence, hyperkinetic movements of distal extremities during wakefulness, hypotonia, bi-pyramidal signs, and impaired response to sound and visual stimuli. Brain MRI at five months showed restricted diffusion along the internal capsule and genu of corpus callosum. A follow up MRI at 18months, showed hyperintensities in brainstem, external and internal capsule, 'trilaminated' appearance of posterior limb of internal capsule and dysmyelination of sub-cortical white matter. MRS showed a peak between 2.2ppm and 2.4ppm, corresponding to glutamine, glutamate and GABA. EEG was normal at six months but showed multifocal epileptiform discharges at 18months. Targeted exome sequencing revealed compound heterozygous missense variations in ABAT resulting in its reduced function. We report the novel association of hypersomnolence and hyperkinetic movement disorder with ABAT variations thus expanding the clinical spectrum of this uncommon neuro-metabolic disorder and discuss the emerging role of GABA in pathways regulating sleep-wake cycle and movement disorders.


Subject(s)
4-Aminobutyrate Transaminase/genetics , Disorders of Excessive Somnolence/genetics , Heterozygote , Hyperkinesis/genetics , Mutation, Missense , 4-Aminobutyrate Transaminase/deficiency , Brain/diagnostic imaging , Brain/physiopathology , Developmental Disabilities/diagnostic imaging , Developmental Disabilities/genetics , Developmental Disabilities/physiopathology , Diagnosis, Differential , Disorders of Excessive Somnolence/diagnostic imaging , Disorders of Excessive Somnolence/physiopathology , Female , Follow-Up Studies , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/physiopathology , Infant , Sequence Homology, Amino Acid
11.
Neurology ; 89(10): 1035-1042, 2017 Sep 05.
Article in English | MEDLINE | ID: mdl-28794249

ABSTRACT

OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable. CONCLUSIONS: Here, we present a phenotype-genotype correlation for SCN1A. We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met.


Subject(s)
Developmental Disabilities/genetics , Epilepsy/genetics , Hyperkinesis/genetics , Mutation, Missense , NAV1.1 Voltage-Gated Sodium Channel/genetics , Age of Onset , Brain/diagnostic imaging , Brain/physiopathology , Child , Child, Preschool , Developmental Disabilities/diagnostic imaging , Developmental Disabilities/physiopathology , Epilepsies, Myoclonic/genetics , Epilepsies, Myoclonic/physiopathology , Epilepsy/diagnostic imaging , Epilepsy/physiopathology , Female , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/physiopathology , Male , Phenotype
12.
JAMA Neurol ; 74(9): 1088-1096, 2017 09 01.
Article in English | MEDLINE | ID: mdl-28672395

ABSTRACT

Importance: Brain hypometabolism is associated with the clinical consequences of the degenerative process, but little is known about regional hypermetabolism, sometimes observed in the brain of patients with clinically manifest Huntington disease (HD). Studying the role of regional hypermetabolism is needed to better understand its interaction with the motor symptoms of the disease. Objective: To investigate the association between brain hypometabolism and hypermetabolism with motor scores of patients with early HD. Design, Setting, and Participants: This study started in 2001, and analysis was completed in 2016. Sixty symptomatic patients with HD and 15 healthy age-matched control individuals underwent positron emission tomography to measure cerebral metabolism in this cross-sectional study. They also underwent the Unified Huntington's Disease Rating Scale motor test, and 2 subscores were extracted: (1) a hyperkinetic score, combining dystonia and chorea, and (2) a hypokinetic score, combining bradykinesia and rigidity. Main Outcomes and Measures: Statistical parametric mapping software (SPM5) was used to identify all hypo- and hypermetabolic regions in patients with HD relative to control individuals. Correlation analyses (P < .001, uncorrected) between motor subscores and brain metabolic values were performed for regions with significant hypometabolism and hypermetabolism. Results: Among 60 patients with HD, 22 were women (36.7%), and the mean (SD) age was 44.6 (7.6) years. Of the 15 control individuals, 7 were women (46.7%), and the mean (SD) age was 42.2 (7.3) years. In statistical parametric mapping, striatal hypometabolism was significantly correlated with the severity of all motor scores. Hypermetabolism was negatively correlated only with hypokinetic scores in the cuneus (z score = 3.95, P < .001), the lingual gyrus (z score = 4.31, P < .001), and the crus I/II of the cerebellum (z score = 3.77, P < .001), a region connected to associative cortical areas. More severe motor scores were associated with higher metabolic values in the inferior parietal lobule, anterior cingulate, inferior temporal lobule, the dentate nucleus, and the cerebellar lobules IV/V, VI, and VIII bilaterally corresponding to the motor regions of the cerebellum (z score = 3.96 and 3.42 in right and left sides, respectively; P < .001). Conclusions and Relevance: Striatal hypometabolism is associated with clinical disease severity. Conversely, hypermetabolism is likely compensatory in regions where it is associated with decreasing motor scores. Hypermetabolism might be detrimental in other structures in which it is associated with more severe motor symptoms. In the cerebellum, both compensatory and detrimental contributions seem to occur. This study helps to better understand the motor clinical relevance of hypermetabolic brain regions in HD.


Subject(s)
Cerebellum/metabolism , Cerebral Cortex/metabolism , Huntington Disease/metabolism , Hyperkinesis/metabolism , Hypokinesia/metabolism , Adult , Cerebellar Nuclei/diagnostic imaging , Cerebellar Nuclei/metabolism , Cerebellum/diagnostic imaging , Cerebral Cortex/diagnostic imaging , Cross-Sectional Studies , Female , Humans , Huntington Disease/complications , Huntington Disease/diagnostic imaging , Hyperkinesis/diagnostic imaging , Hyperkinesis/etiology , Hypokinesia/diagnostic imaging , Hypokinesia/etiology , Male , Middle Aged
13.
J Atten Disord ; 20(11): 934-945, 2016 11.
Article in English | MEDLINE | ID: mdl-24141099

ABSTRACT

OBJECTIVE: The findings of genetic, imaging and neuropsychological studies of attention-deficit hyperactivity disorder (ADHD) are mixed. To understand why this might be the case we use both dimensional and categorical symptom measurement to provide alternate and detailed perspectives of symptom expression. METHOD: Interviewers collected ADHD, conduct problems (CP) and sociodemographic data from 3793 twins and their siblings aged 22 to 49 (M = 32.6). We estimate linear weighting of symptoms across ADHD and CP items. Latent class analyses and regression describe associations between measured variables, environmental risk factors and subsequent disadvantage. Additionally, the clinical relevance of each class was estimated. RESULTS: Five classes were found for women and men; few symptoms, hyperactive-impulsive, CP, inattentive, combined symptoms with CP. Women within the inattentive class reported more symptoms and reduced emotional health when compared to men and to women within other latent classes. Women and men with combined ADHD symptoms reported comorbid conduct problems but those with either inattention or hyperactivity-impulsivity only did not. CONCLUSION: The dual perspective of dimensional and categorical measurement of ADHD provides important detail about symptom variation across sex and with environmental covariates.


Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Conduct Disorder/diagnosis , Hyperkinesis/diagnostic imaging , Impulsive Behavior , Mood Disorders/diagnosis , Siblings , Twins , Adolescent , Adult , Attention Deficit Disorder with Hyperactivity/classification , Attention Deficit Disorder with Hyperactivity/epidemiology , Attention Deficit Disorder with Hyperactivity/psychology , Australia/epidemiology , Comorbidity , Conduct Disorder/epidemiology , Female , Humans , Male , Mental Health , Middle Aged , Mood Disorders/epidemiology , Risk Factors , Young Adult
14.
Cortex ; 82: 35-47, 2016 09.
Article in English | MEDLINE | ID: mdl-27341471

ABSTRACT

INTRODUCTION: Anosognosia or impaired self-awareness of motor symptoms (ISAm) has been rarely investigated in Parkinson's disease (PD). We here studied the relationship between ISAm during periods with and without dopaminergic medication (ON- and OFF-state), and clinical, neuropsychological, and neuroimaging data to further elucidate behavioural aspects and the neurobiological underpinnings of ISAm. METHODS: Thirty-one right-handed, non-demented, non-depressed PD patients were included. ISAm was evaluated using a recently developed scale that assesses awareness of dyskinesia, resting tremor, and bradykinesia. The test was applied during both ON- and OFF-states. Multiple correlation analyses between ISAm and behavioural data were conducted. In addition, imaging of glucose metabolism using 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) was performed to investigate the neural basis of ISAm. A multiple regression approach was applied to investigate metabolism alterations related to ISAm. RESULTS: In the OFF-state, higher ISAm was associated with left-sided disease onset, older age, and shorter disease duration. Concerning FDG-PET data, there was a significant negative correlation between higher OFF-state ISAm and decreased glucose metabolism in the right inferior frontal gyrus (IFG). In the ON-state, ISAm was not significantly correlated with clinical or behavioural data. However, there was a significant correlation between higher ISAm and an increased metabolism in the bilateral medial frontal gyrus, left IFG, right superior frontal gyrus and right precentral gyrus. CONCLUSION: The results support the role of the right hemisphere in awareness of motor symptoms in the OFF-state. In the ON-state, dopaminergic medication and dyskinesia influence ISAm and relate to metabolism changes in bilateral frontal regions.


Subject(s)
Agnosia/psychology , Awareness , Brain/diagnostic imaging , Hyperkinesis/psychology , Hypokinesia/psychology , Parkinson Disease/psychology , Aged , Agnosia/complications , Agnosia/diagnostic imaging , Brain Mapping , Female , Fluorodeoxyglucose F18 , Humans , Hyperkinesis/complications , Hyperkinesis/diagnostic imaging , Hypokinesia/complications , Hypokinesia/diagnostic imaging , Male , Middle Aged , Neuroimaging , Neuropsychological Tests , Parkinson Disease/complications , Parkinson Disease/diagnostic imaging , Positron-Emission Tomography
15.
Seizure ; 14(5): 354-61, 2005 Jul.
Article in English | MEDLINE | ID: mdl-15967684

ABSTRACT

PURPOSE: To describe repetitive movements of the right arm possibly originating from the ipsilateral SMA area in two drug-resistant epileptic patients. METHODS: Two epileptic patients (one female, one male, 35 and 36 years old, respectively) were submitted to pre-surgical evaluation including history, neurological examination, long-term video-EEG monitoring, interictal and ictal SPET, MRI and fMRI, neuropsychological assessment. Invasive recordings (stereoelectroencephalography) were also performed. RESULTS: In both patients ictal semiology was characterized by very stereotyped repetitive right arm movements, i.e. tapping towards the thorax (movement rate of 6-7 Hz and 3-4 Hz for the two subjects, respectively). Seizures in the first patient, whose epilepsy was cryptogenetic, originated from the right pre-SMA area, which was surgically removed. She is seizure free 2 years after the operation. In the second patient, in whom a right pre-frontal post-abscess porencephaly was disclosed, the epileptogenic zone included the lesion and surrounding areas, while the SMA area was involved less consistently. CONCLUSIONS: Even if, according to literature, SMA epilepsy is predominantly characterized by postural manifestations, ipsilateral repetitive movements could be a relevant sign in this kind of epilepsy, as showed in our first patient. The presence of similar semiology in the second patient, might suggest that the symptomatogenic zone involved SMA area.


Subject(s)
Automatism/etiology , Cerebral Cortex/physiopathology , Functional Laterality , Hyperkinesis/etiology , Seizures/complications , Adult , Automatism/diagnostic imaging , Automatism/pathology , Cerebral Cortex/diagnostic imaging , Cerebral Cortex/pathology , Electroencephalography/methods , Female , Humans , Hyperkinesis/diagnostic imaging , Hyperkinesis/pathology , Magnetic Resonance Imaging/methods , Male , Neuropsychological Tests , Seizures/diagnostic imaging , Seizures/pathology , Tomography, Emission-Computed, Single-Photon/methods
17.
Epilepsy Res ; 101(3): 237-45, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22551665

ABSTRACT

This study aims to contribute to the identification of selective brain regions involved in hyperkinetic behaviors. We studied the whole-brain voxel-based interictal metabolic 18FDG-PET pattern of 23 patients with hyperkinetic seizures, in comparison with both 15 healthy subjects similar for age and gender, and 23 patients without hyperkinetic seizures. Patients were in particular similar for the localization of the epileptogenic zone, this having been defined using stereoelectroencephalography (SEEG) when clinically indicated (15/23 patients with hyperkinetic seizures and 13/23 patients without hyperkinetic seizures). Using conjunction voxel-based analysis, patients with hyperkinetic seizures exhibited significant hypometabolism within bilateral midbrain and the right caudate head, in comparison both to healthy subjects (p<0.05, FDR-corrected for the voxel) and to patients without hyperkinetic seizures (p<0.0167, uncorrected for the voxel). Findings were secondarily confirmed separately in each subgroup of patients with frontal, temporal or posterior epilepsy. These findings argue for a specific subcortical metabolic impairment in patients with hyperkinetic seizures, within brain structures supposed to be involved in the generation of primitive motor programs.


Subject(s)
Brain/diagnostic imaging , Hyperkinesis/diagnostic imaging , Seizures/diagnostic imaging , Adolescent , Adult , Brain/metabolism , Brain Mapping , Child , Child, Preschool , Female , Humans , Hyperkinesis/metabolism , Male , Middle Aged , Radionuclide Imaging , Seizures/metabolism
20.
Ultraschall Med ; 25(5): 337-41, 2004 Sep.
Article in German | MEDLINE | ID: mdl-15368136

ABSTRACT

Muscular hyperkinesias can be visualized by means of ultrasound (US): Ultrasonographic detection of fasciculations has been best evaluated. However, so-called ripplings, myoclonias and choreatic hyperkinesias as well as tremores can also be visualized by US. Muscular US has proven as a precise imaging technique for the detection of fasciculations. Fasciculations are brief, localized muscle twitches, usually lasting for 0.2 - 0.5 seconds. Some myoklonias may present similar in US, others present with a longer duration. In addition, muscle US allows a very easy and reliable detection of tremor frequency. This article reviews the present ultrasonographic facilities in the detection of muscular hyperkinesias and gives future perspectives.


Subject(s)
Fasciculation/diagnostic imaging , Hyperkinesis/diagnostic imaging , Humans , Hyperkinesis/classification , Muscle, Skeletal/diagnostic imaging , Ultrasonography
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