Browse
Submit Data
Databases
API
Help

Dataset Information

21 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Focal Predominant Forms of Posthypoxic Action Myoclonus.

ABSTRACT: Chronic posthypoxic action myoclonus is usually recognized as multifocal or generalized and, in most cases, causes severe disability. It is also commonly associated with other neurological symptoms, such as ataxia. We report two cases of focal predominant postanoxic action myoclonus and review the limited relevant literature. The first case presented with action and stimulus sensitive myoclonus in the lower limbs that caused him limited disability. He had not received any diagnosis in almost 2 years. The second patient exhibited predominantly focal facial myoclonus, although she was more limited by dysphasia and hemiplegia as a consequence of an ischemic stroke. Both patients responded to antiepileptic drugs. We found 9 of 159 previously reported cases with this focal distribution. Physicians should be aware of this limited phenotype given that the unusual focal nature of the movements may result in incorrect diagnosis and treatment.

SUBMITTER: Gasca-Salas C

PROVIDER: S-EPMC6353462 | biostudies-literature | 2016 Jul-Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Focal Predominant Forms of Posthypoxic Action Myoclonus.

Gasca-Salas Carmen C Lang Anthony E AE

Movement disorders clinical practice 20160129 4

Chronic posthypoxic action myoclonus is usually recognized as multifocal or generalized and, in most cases, causes severe disability. It is also commonly associated with other neurological symptoms, such as ataxia. We report two cases of focal predominant postanoxic action myoclonus and review the limited relevant literature. The first case presented with action and stimulus sensitive myoclonus in the lower limbs that caused him limited disability. He had not received any diagnosis in almost 2 y ...[more]

PMID: 30713935

Similar Datasets

The interrelation between clinical presentation and neurophysiology of posthypoxic myoclonus.

Project description:ObjectivePosthypoxic myoclonus (PHM) in the first few days after resuscitation can be divided clinically into generalized and focal (uni- and multifocal) subtypes. The former is associated with a subcortical origin and poor prognosis in patients with postanoxic encephalopathy (PAE), and the latter with a cortical origin and better prognosis. However, use of PHM as prognosticator in PAE is hampered by the modest objectivity in its clinical assessment. Therefore, we aimed to obtain the anatomical origin of PHM with use of neurophysiological investigations, and relate these to its clinical presentation.MethodsThis study included 20 patients (56 ± 18 y/o, 68% M, 2 survived, 1 excluded) with EEG-EMG-video recording. Three neurologists classified PHM into generalized or focal PHM. Anatomical origin (cortical/subcortical) was assessed with basic and advanced neurophysiology (Jerk-Locked Back Averaging, coherence analysis).ResultsClinically assessed origin of PHM did not match the result obtained with neurophysiology: cortical PHM was more likely present in generalized than in focal PHM. In addition, some cases demonstrated co-occurrence of cortical and subcortical myoclonus. Patients that recovered from PAE had cortical myoclonus (1 generalized, 1 focal).InterpretationHypoxic damage to variable cortical and subcortical areas in the brain may lead to mixed and varying clinical manifestations of myoclonus that differ of those patients with myoclonus generally encountered in the outpatient clinic. The current clinical classification of PHM is not adequately refined to play a pivotal role in guiding treatment decisions to withdraw care. Our neurophysiological characterization of PHM provides specific parameters to be used in designing future comprehensive studies addressing the potential role of PHM as prognosticator in PAE.

| S-EPMC5899907 | biostudies-literature

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Project description:BackgroundKufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this syndrome.MethodAll family members underwent careful neurologic examination. Exome sequencing was performed and ATP13A2 variation genotyped in all family members.ResultsCognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in ATP13A2 gene.ConclusionsWe reported five KRS affected siblings who manifested myoclonus and seizure. The most severely affected one demonstrated action myoclonus, which has not been reported so far.

| S-EPMC6407049 | biostudies-literature

The heterogeneity of focal forms of congenital hyperinsulinism.

Project description:BackgroundCongenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia due to unregulated insulin secretion from pancreatic β-cells. Histologically, there are two major subgroups, focal and diffuse. Focal CHI is typically unresponsive to diazoxide and can be cured with surgical removal of the focal lesion.AimsWe report on three patients with focal CHI to illustrate the marked clinical, genetic, radiological, and histological heterogeneity.Methods and resultsThe first two patients had focal CHI due to a paternal (c.3992-9G→A) ABCC8 mutation. One of these patients was fully responsive to a small dose (5 mg/kg · d) of diazoxide, whereas the other patient was medically unresponsive. In both patients, the focal lesions were accurately localized preoperatively by [(18)F]dihydroxyphenylalanine (DOPA) positron emission tomography (PET) and surgically resected. The third patient had a paternally inherited ABCC8 (A1493T) mutation, and the initial [(18)F]DOPA PET scan indicated extensive uptake of DOPA in the body and tail of the pancreas. However, despite surgical resection of the body and tail, this patient continued to have severe CHI. A subsequent [(18)F]DOPA PET scan now showed markedly increased DOPA uptake in the remaining body and head of the pancreas. This focal lesion occupied virtually the whole of the pancreas. conclusions: These three cases illustrate that focal lesions even with the same genotype (c.3992-9G→A) may have a different clinical presentation and that [(18)F]DOPA PET scans in very large focal lesions may be difficult to interpret.

| S-EPMC7611920 | biostudies-literature

Focal Unilateral Palatal Myoclonus Causing Objective Clicking Tinnitus without Uvula Elevation Diagnosed by Concurrent Auscultation.

Project description:Palatal myoclonus generally entails a visible elevation of the palate and uvula and may be accompanied by myoclonus of other oropharyngeal muscles. A 55-year-old man presented with left ear clicking and hyperacusis. Examination showed arrhythmic left lateral soft palate contraction in the tensor veli palatini region without elevation of the uvula, which correlated with an audible click by auscultation with a stethoscope over the left ear. This is a rare case of focal, unilateral palatal myoclonus without visual uvula elevation with concurrent auscultation, demonstrating the importance of careful examination to detect focal myoclonic contractions.

| S-EPMC7502295 | biostudies-literature

Case Report: Focal Myoclonus with a Striatal Lesion as a Presentation of Subacute Sclerosing Panencephalitis.

Project description:Adult-onset subacute sclerosing panencephalitis (SSPE) is rare, and focal myoclonus as a presenting feature poses a diagnostic dilemma. We report an adult SSPE patient with unusual clinical and radiological features. A 20-year-old girl had jerky neck movement 9 months earlier, which progressed to left hemimyoclonus in 2 months and generalized frequent myoclonus and fall at 4 months. By 6 months, she was bedbound. On examination, her Mini-Mental State Examination score was 10, and patchy retinitis was observed around the macula. Magnetic resonance imaging revealed corpus striatal involvement and electroencephalography showed periodic discharges. Measles cerebrospinal fluid/serum immunoglobulin G index was 3.3 (normal < 1.3), confirming the diagnosis of SSPE. SSPE should also be considered in adults having focal myoclonus with corpus striatal lesion. EEG is helpful in the diagnosis.

| S-EPMC9209915 | biostudies-literature

The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.

Project description:To explore the cortical network sustaining action myoclonus and to found markers of the resulting functional impairment, we evaluated the distribution of the cortico-muscular coherence (CMC) and the frequency of coherent cortical oscillations with magnetoencephalography (MEG). All patients had EPM1 (Unverricht-Lundborg) disease known to present with prominent and disabling movement-activated myoclonus.Using autoregressive models, we evaluated CMC on MEG sensors grouped in regions of interests (ROIs) above the main cortical areas. The movement was a repeated sustained isometric extension of the right hand and right foot. We compared the data obtained in 10 EPM1 patients with those obtained in 10 age-matched controls.As expected, CMC in beta band was significantly higher in EPM1 patients compared to controls in the ROIs exploring the sensorimotor cortex, but, it was also significantly higher in adjacent ROIs ipsilateral and contralateral to the activated limb. Moreover, the beta-CMC peak occurred at frequencies significantly slower and more stable frequencies in EPM1 patients with respect to controls. The frequency of the beta-CMC peak inversely correlated with the severity of myoclonus.the high and spatially extended beta-CMC peaking in a restricted range of low-beta frequencies in EPM1 patients, suggest that action myoclonus may result not only from an enhanced local synchronization but also from a specific oscillatory activity involving an expanded neuronal pool. The significant relationship between beta-CMC peak frequency and the severity of the motor impairment can represent a useful neurophysiological marker for the patients' evaluation and follow-up.

| S-EPMC5100097 | biostudies-literature

Characterization of mAb dimers reveals predominant dimer forms common in therapeutic mAbs.

Project description:The formation of undesired high molecular weight species such as dimers is an important quality attribute for therapeutic monoclonal antibody formulations. Therefore, the thorough understanding of mAb dimerization and the detailed characterization mAb dimers is of great interest for future pharmaceutical development of therapeutic antibodies. In this work, we focused on the analyses of different mAb dimers regarding size, surface properties, chemical identity, overall structure and localization of possible dimerization sites. Dimer fractions of different mAbs were isolated to a satisfactory purity from bulk material and revealed 2 predominant overall structures, namely elongated and compact dimer forms. The elongated dimers displayed one dimerization site involving the tip of the Fab domain. Depending on the stress applied, these elongated dimers are connected either covalently or non-covalently. In contrast, the compact dimers exhibited non-covalent association. Several interaction points were detected for the compact dimers involving the hinge region or the base of the Fab domain. These results indicate that mAb dimer fractions are rather complex and may contain more than one kind of dimer. Nevertheless, the overall appearance of mAb dimers suggests the existence of 2 predominant dimeric structures, elongated and compact, which are commonly present in preparations of therapeutic mAbs.

| S-EPMC4968096 | biostudies-literature

Identifying a subtype of Alzheimer's disease characterised by predominant right focal cortical atrophy.

Project description:We aimed to identify an Alzheimer's disease (AD) subtype with right predominant focal atrophy. We recruited 17 amyloid PET positive logopenic variant primary progressive aphasia (lvPPA) and 226 amyloid PET positive AD patients. To identify AD with right focal atrophy (Rt-AD), we selected cortical areas that showed more atrophy in lvPPA than in AD and calculated an asymmetry index (AI) for this area in each individual. Using a receiver operating characteristic curve, we found that the optimal AI cut-off to discriminate lvPPA from AD was -3.1 (mean AI - 1.00 standard deviation) (sensitivity 88.2, specificity 89.8). We identified 32 Rt-AD patients whose AI was above mean AI?+?1.00 standard deviation, 38 Lt-AD patients whose AI was lower than mean AI - 1.00 standard deviation, and 173 Symmetric-AD patients whose AI was within mean AI?±?1.00 standard deviation. We characterized clinical and cognitive profiles of Rt-AD patients by comparing with those of Lt-AD and Symmetric-AD patients. Compared to Symmetric-AD patients, Rt-AD patients had asymmetric focal atrophy in the right temporoparietal area and showed poor performance on visuospatial function testing (p?=?0.009). Our findings suggested that there is an AD variant characterized by right focal atrophy and visuospatial dysfunction.

| S-EPMC7190862 | biostudies-literature

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.

Project description:Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF). LIMP2-deficient fibroblasts virtually lack GBA like the cells of patients with Gaucher disease (GD), a lysosomal storage disorder caused by mutations in the GBA gene. While GD is characterized by the presence of glucosylceramide-laden macrophages, AMRF patients do not show these. We studied the fate of GBA in relation to LIMP2 deficiency by employing recently designed activity-based probes labeling active GBA molecules. We demonstrate that GBA is almost absent in lysosomes of AMRF fibroblasts. However, white blood cells contain considerable amounts of residual enzyme. Consequently, AMRF patients do not acquire lipid-laden macrophages and do not show increased plasma levels of macrophage markers, such as chitotriosidase, in contrast to GD patients. We next investigated the consequences of LIMP2 deficiency with respect to plasma glycosphingolipid levels. Plasma glucosylceramide concentration was normal in the AMRF patients investigated as well as in LIMP2-deficient mice. However, a marked increase in the sphingoid base, glucosylsphingosine, was observed in AMRF patients and LIMP2-deficient mice. Our results suggest that combined measurements of chitotriosidase and glucosylsphingosine can be used for convenient differential laboratory diagnosis of GD and AMRF.

| S-EPMC3927471 | biostudies-literature

Distinct phospho-forms of cortactin differentially regulate actin polymerization and focal adhesions.

Project description:Cortactin is an actin-binding protein that is overexpressed in many cancers and is a substrate for both tyrosine and serine/threonine kinases. Tyrosine phosphorylation of cortactin has been observed to increase cell motility and invasion in vivo, although it has been reported to have both positive and negative effects on actin polymerization in vitro. In contrast, serine phosphorylation of cortactin has been shown to stimulate actin assembly in vitro. Currently, the effects of cortactin serine phosphorylation on cell migration are unclear, and furthermore, how the distinct phospho-forms of cortactin may differentially contribute to cell migration has not been directly compared. Therefore, we tested the effects of different tyrosine and serine phospho-mutants of cortactin on lamellipodial protrusion, actin assembly within cells, and focal adhesion dynamics. Interestingly, while expression of either tyrosine or serine phospho-mimetic cortactin mutants resulted in increased lamellipodial protrusion and cell migration, these effects appeared to be via distinct processes. Cortactin mutants mimicking serine phosphorylation appeared to predominantly affect actin polymerization, whereas mutation of cortactin tyrosine residues resulted in alterations in focal adhesion turnover. Thus these findings provide novel insights into how distinct phospho-forms of cortactin may differentially contribute to actin and focal adhesion dynamics to control cell migration.

| S-EPMC2584996 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data