0000000000736400

AUTHOR

Anna Heidbreder

0000-0002-9552-7619

showing 3 related works from this author

Clinical manifestations of the anti-IgLON5 disease

2017

Objective:To report the presentation, main syndromes, human leukocyte antigen (HLA) association, and immunoglobulin G (IgG) subclass in the anti-IgLON5 disease: a disorder with parasomnias, sleep apnea, and IgLON5 antibodies.Methods:This was a retrospective clinical analysis of 22 patients. The IgG subclass was determined using reported techniques.Results:Patients' median age was 64 years (range 46–83). Symptoms that led to initial consultation included sleep problems (8 patients; 36%), gait abnormalities (8; 36%), bulbar dysfunction (3; 14%), chorea (2; 9%), and cognitive decline (1; 5%). By the time of diagnosis of the disorder, 4 syndromes were identified: (1) a sleep disorder with paras…

Sleep Wake Disorders0301 basic medicinemedicine.medical_specialtyCell Adhesion Molecules NeuronalPopulationExcessive daytime sleepinessAutoimmune DiseasesProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansCognitive declineeducationAgedAutoantibodiesRetrospective StudiesAged 80 and overeducation.field_of_studySleep disorderbusiness.industryBrainSleep apneaChoreaParasomniaMiddle Agedmedicine.disease030104 developmental biologyImmunoglobulin GImmunotherapyNeurology (clinical)medicine.symptomCarrier ProteinsbusinessBiomarkers030217 neurology & neurosurgeryHLA-DRB1 ChainsNeurology
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Levels of GHB in hair after regular application.

2021

Gamma hydroxybutyrate (GHB) is a central nervous system depressant that is an approved drug for the treatment of narcolepsy with cataplexy and other syndromes. Due to its dose dependent stimulating, relaxing or sedative effects, illicit abuses include recreational use by young people and cases of drug-facilitated crime (DFC). Since GHB is also produced endogenously, for forensic questions, it is important to be able to differentiate between endogenous GHB and elevated levels due to additional intake. In this study, we measured GHB concentrations in hair of patients with narcolepsy receiving daily GHB treatment. The results were compared to endogenous concentrations and concentrations after …

AdultMalemedicine.medical_specialtyAdolescentSodium OxybateDose dependenceRecreational use01 natural sciencesPathology and Forensic Medicine03 medical and health sciencesYoung Adult0302 clinical medicineTandem Mass SpectrometryInternal medicineMedicineHumans030216 legal & forensic medicineNarcolepsySleep disorderbusiness.industry010401 analytical chemistryCentral Nervous System DepressantsGamma hydroxybutyratemedicine.disease0104 chemical sciencesSodium saltEndocrinologySedative EffectsFemalebusinessSodium OxybateLawNarcolepsyChromatography LiquidHairForensic science international
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Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease

2021

Background and ObjectivesAnti-IgLON5 disease is a recently described neurologic disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are underreported. We describe the frequency and types of movement disorders in a series of consecutive patients with this disease.MethodsIn this retrospective, observational study, the presence and phenomenology of movement disorders were assessed with a standardized clinical questionnaire. Available videos were centrally reviewed by 3 experts in movement disorders.ResultsSeventy-two patients were included. In 41 (57%), the main reason for initial consult…

DystoniaPediatricsmedicine.medical_specialtyAtaxiaMovement disordersbusiness.industryautoimmunityAnti-IgLON5neurodegenerationChoreamedicine.diseaseAkathisianervous system diseasesmedicineBody regionHuman medicineNeurology (clinical)Myokymiamedicine.symptombusinessMyoclonusResearch Article
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