Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Acute chorea-dystonia heralding diabetes mellitus.

ABSTRACT: Hemichorea-hemiballism associated with non-ketotic hyperglycaemia is a rare dyskinetic syndrome during uncontrolled or undiagnosed diabetes. We reported a 41-year-old man suffering from sudden choreodystonic movements and undiagnosed hyperglycaemia. We described a combination of several rare aspects, emphasising the importance of screening for diabetes as a cause of acute onset of hyperkinetic movement disorders.

SUBMITTER: D'Angelo R

PROVIDER: S-EPMC3794330 | biostudies-other | 2013

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Acute chorea-dystonia heralding diabetes mellitus.

D'Angelo Roberto R Rinaldi Rita R Pinardi Federica F Guarino Maria M

BMJ case reports 20130902

Hemichorea-hemiballism associated with non-ketotic hyperglycaemia is a rare dyskinetic syndrome during uncontrolled or undiagnosed diabetes. We reported a 41-year-old man suffering from sudden choreodystonic movements and undiagnosed hyperglycaemia. We described a combination of several rare aspects, emphasising the importance of screening for diabetes as a cause of acute onset of hyperkinetic movement disorders. ...[more]

PMID: 24000205

Similar Datasets

Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

Project description:Mutations in the ATP1A3 gene (the ?-3 subunit of the Na+/K+ ATPase) are associated with rapid-onset dystonia-parkinsonism; alternating hemiplegia of childhood; and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). The authors report 3 cases with pleiotropic movement disorders, including a novel mutation in a patient who presented with ataxia and dysphagia. Case 1 had a history of attention deficit hyperactivity disorder and developed dysphagia, chorea, and limb dystonia after a febrile illness at age 12 years. Case 2 presented with limb dystonia at age 26 years and dysarthia and dysphagia after a febrile illness. Case 3 had a history of learning disability and developed progressive ataxia with cerebellar atrophy at age 20 years. In all cases, deleterious mutations were identified in ATP1A3. They illustrate wide phenotypic variability, including chorea and ataxia. New cases are likely to be diagnosed as knowledge about the phenotypic spectrum expands.

| S-EPMC6178757 | biostudies-literature

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

Project description:Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dystonia and myoclonus.(3) We present a case with early-onset chorea, ataxia, and dystonia.

| S-EPMC4817908 | biostudies-literature

Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia.

Project description: Not available

| S-EPMC6353315 | biostudies-literature

Chorea Hyperglycemia Basal Ganglia Syndrome in a Young Patient with Type 1 Diabetes Mellitus: a Case Report.

Project description:Chorea hyperglycemia basal ganglia (CHBG) syndrome is an uncommon manifestation of diabetes seen in patients with poor glycemic control. It is characterized by sudden onset of chorea with characteristic hyperintensities of the basal ganglia on brain magnetic resonance imaging. We report a case of a 31-year-old female patient with a history of type 1 diabetes mellitus, renal failure, and hypertension, who presented with acute symptoms of chorea involving both the upper and lower limbs with facial and cervical dystonia. Magnetic resonance imaging revealed bilateral hyperintensities of the globus pallidus and putamen. Control of blood glucose levels led to resolution of the choreic movements. In addition, follow-up magnetic resonance imaging studies revealed improvement in the hyperintensities of the basal ganglia bilaterally.

| S-EPMC9879457 | biostudies-literature

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

Project description:BackgroundWe describe a 4-generation Dutch pedigree with a unique dominantly inherited clinical phenotype of a combined progressive chorea and cervical dystonia carrying a novel heterozygous dopamine D2 receptor (DRD2) variant.ObjectivesThe objective of this study was to identify the genetic cause of the disease and to further investigate the functional consequences of the genetic variant.MethodsAfter detailed clinical and neurological examination, whole-exome sequencing was performed. Because a novel variant in the DRD2 gene was found as the likely causative gene defect in our pedigree, we sequenced the DRD2 gene in a cohort of 121 Huntington-like cases with unknown genetic cause (Germany). Moreover, functional characterization of the DRD2 variant included arrestin recruitment, G protein activation, and G protein-mediated inhibition of adenylyl cyclase determined in a cell model, and G protein-regulated inward-rectifying potassium channels measured in midbrain slices of mice.ResultWe identified a novel heterozygous variant c.634A > T, p.Ile212Phe in exon 5 of DRD2 that cosegregated with the clinical phenotype. Screening of the German cohort did not reveal additional putative disease-causing variants. We demonstrated that the D2S/L -I212 F receptor exhibited increased agonist potency and constitutive activation of G proteins in human embryonic kidney 239 cells as well as significantly reduced arrestin3 recruitment. We further showed that the D2S -I212 F receptor exhibited aberrant receptor function in mouse midbrain slices.ConclusionsOur results support an association between the novel p.Ile212Phe variant in DRD2, its modified D2 receptor activity, and the hyperkinetic movement disorder reported in the 4-generation pedigree. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

| S-EPMC8049080 | biostudies-literature

Circulating miRNAs for gestational diabetes mellitus

Project description:We compared the plasma miRNA expression profiles between healthy and GDM women by microarray analysis.Our study offers new insights into circulating biomarkers of GDM and thus provides a valuable resource for future investigations.

2017-04-22 | GSE98043 | GEO

Chorea Hyperglycemia Basal Ganglia Syndrome-A Rare Case of Bilateral Chorea-Ballismus in Acute Non-Ketotic Hyperglycemia.

Project description: Not available

| S-EPMC8680906 | biostudies-literature

Recognition of incident diabetes mellitus during an acute myocardial infarction.

Project description:Diabetes mellitus (DM) is common in patients hospitalized with an acute myocardial infarction (AMI), representing in some cases the first opportunity to recognize and treat DM. We report the incidence of new DM and its recognition among patients with AMI.Patients in a 24-site US AMI registry (2005-08) had glycosylated hemoglobin assessed at a core laboratory, with results blinded to clinicians and local clinical measurements left to the discretion of the treating providers. Among 2854 AMI patients without known DM on admission, 287 patients (10%) met criteria for previously unknown DM, defined by a core laboratory glycosylated hemoglobin of ?6.5%. Among these, 186 (65%) were unrecognized by treating clinicians, receiving neither DM education, glucose-lowering medications at discharge, nor documentation of DM in the chart (median glycosylated hemoglobin of unrecognized patients, 6.7%; range, 6.5-12.3%). Six months after discharge, only 5% of those not recognized as having DM during hospitalization had been initiated on glucose-lowering medications versus 66% of those recognized (P<0.001).Underlying DM that has not been previously diagnosed is common among AMI patients, affecting 1 in 10 patients, yet is recognized by the care team only one third of the time. Given its frequency and therapeutic implications, including but extending beyond the initiation of glucose-lowering treatment, consideration should be given to screening all AMI patients for DM during hospitalization. Inexpensive, ubiquitous, and endorsed as an acceptable screen for DM, glycosylated hemoglobin testing should be considered for this purpose.

| S-EPMC4439264 | biostudies-literature

Acute Kidney Injury Following Admission with Acute Coronary Syndrome: The Role of Diabetes Mellitus.

Project description:To evaluate the role of diabetes mellitus in the incidence, risk factors, and outcomes of AKI (acute kidney injury) in patients admitted with ACS (acute coronary syndrome). We performed a comparative evaluation of ACS patients with vs. without DM who developed AKI enrolled in the biennial ACS Israeli Surveys (ACSIS) between 2000 and 2018. AKI was defined as an absolute increase in serum creatinine (≥0.5 mg/dL) or above 1.5 mg/dL or new renal replacement therapy upon admission with ACS. Outcomes included 30-day major adverse cardiovascular events (MACE) and 1-year all-cause mortality. The current study included a total of 16,879 patients, median age 64 (IQR 54-74), 77% males, 36% with DM. The incidence of AKI was significantly higher among patients with vs. without DM (8.4% vs. 4.7%, p < 0.001). The rates of 30-day MACE (40.8% vs. 13.4%, p < 0.001) and 1-year mortality (43.7% vs. 10%, p < 0.001) were significantly greater among diabetic patients who developed vs. those who did not develop AKI respectively, yet very similar among patients that developed AKI with vs. without DM (30-day MACE 40.8% vs. 40.3%, p = 0.9 1-year mortality 43.7 vs. 44.8%, p = 0.8, respectively). Multivariate analyses adjusted to potential confounders, showed similar independent predictors of AKI among patients with and without DM, comprising; older age, chronic kidney disease, congestive heart failure, and peripheral arterial disease. Although patients with DM are at much greater risk for AKI when admitted with ACS, the independent predictors of AKI and the worse patient outcomes when AKI occurs, are similar irrespective to DM status.

| S-EPMC8584470 | biostudies-literature

Diabetes Mellitus Type 1 miRnome

Project description:Diabetes Mellitus Type 1 miRnome

| PRJEB51173 | ENA