Anna Heidbreder

Anna Heidbreder
Medizinische Universität Innsbruck · Department of Neurology

About

173
Publications
14,694
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2,261
Citations
Citations since 2016
144 Research Items
2002 Citations
20162017201820192020202120220100200300400500
20162017201820192020202120220100200300400500
20162017201820192020202120220100200300400500
20162017201820192020202120220100200300400500
Additional affiliations
October 2007 - February 2020
Universitätsklinikum Münster
Position
  • Oberärztin

Publications

Publications (173)
Article
Anti‐IgLON5 disease is an autoimmune encephalopathy with sleep disturbances as a hallmark in the majority of reported cases. Additional clinical symptoms are heterogenous and include movement disorders, bulbar dysfunction, autonomic disorders, and neurocognitive impairment. Here, we report the case of an 87‐year‐old woman presenting with isolated p...
Article
Study objectives: Sleep disorders, daytime sleepiness and autonomic dysfunction are commonly reported among patients with multiple system atrophy (MSA) and Parkinson disease (PD). We aimed to assess sleep and autonomic function in these patients to evaluate the relationships between sleep disorders, excessive daytime sleepiness (EDS) and autonomic...
Conference Paper
Movements during sleep characterize sleep disorders, which can disturb sleep or its onset, impacting sleep quantity and quality. Video-polysomnography is the current gold standard to assess movements during sleep, but its availability is limited. Using data recorded with a 3D time of flight sensor, we developed a novel method of encoding temporal a...
Article
Full-text available
Zusammenfassung Hintergrund Sechs bis zehn Prozent aller Patienten mit einer obstruktiven Schlafapnoe leiden trotz adäquater nächtlicher Überdrucktherapie oder einer effektiven Alternativtherapie an einer residualen exzessiven Tagesschläfrigkeit (rETS). Die Differentialdiagnose der rETS stellt im klinischen Alltag eine interdisziplinäre Herausford...
Article
Introduction A particularly high burden of sleep apnoea is reported in patients treated with cardiac implants such as pacemakers and defibrillators. Sleep apnoea diagnosis remains a complex procedure mainly based on sleep and respiratory indices captured by polysomnography (PSG) or respiratory polygraphy (PG). Objective We aimed to evaluate the pe...
Article
Full-text available
Background and Objectives Recent studies fueled doubts as to whether all currently defined central disorders of hypersomnolence are stable entities, especially narcolepsy type 2 and idiopathic hypersomnia. New reliable biomarkers are needed and the question arises whether current diagnostic criteria of hypersomnolence disorders should be reassessed...
Article
Full-text available
This manuscript presents an overview of REM sleep behaviour disorder (RBD) with a special focus on European contributions. After an introduction examining the history of the disorder, we address the pathophysiological and clinical aspects, as well as the diagnostic issues. Further, implications of RBD diagnosis and biomarkers are discussed. Contrib...
Article
Anti-IgLON5 disease is a newly defined clinical entity characterized by a progressive course with high disability and mortality rate. While precise pathogenetic mechanisms remain unclear, features characteristic of both autoimmune and neurodegenerative diseases were reported. Data on immunotherapy are limited and its efficacy remains controversial....
Article
Full-text available
Background and Objectives Despite detection of autoantibodies, anti-IgLON5 disease was historically considered a tau-associated neurodegenerative disease, with limited treatment options and detrimental consequences for the patients. Observations in increasing case numbers hint toward underlying inflammatory mechanisms that, early detection provided...
Article
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Objective Video-polysomnography (VPSG) and prolonged video-EEG-monitoring (pVEEG-M) are multimodal neurophysiological investigation modalities. Depending on indication either is performed, but occasionally patients undergo both (during the same or separate stays). We sought to assess the reasons and potential benefits of dual diagnostic assessments...
Article
Full-text available
Study objectives To identify a fast and reliable method for rapid eye movement (REM) sleep without atonia (RWA) quantification. Methods We analyzed 36 video-polysomnographies (v-PSGs) of isolated REM sleep behavior disorder (iRBD) patients and 35 controls’ v-PSGs. Patients diagnosed with RBD had: i) RWA, quantified with a reference method, i.e. au...
Article
Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia characterized by dream enactment, abnormal jerks and movements during REM sleep. Isolated RBD (iRBD) is recognized as the early stage of alpha-synucleinopathies, i.e. dementia with Lewy bodies, Parkinson’s disease and multiple system atrophy. The certain diagnosis of iRBD requir...
Article
Background A particularly high burden of sleep apnoea is reported in patients treated with cardiac implants such as pacemakers and defibrillators. Sleep apnoea diagnosis remains a complex procedure mainly based on sleep and respiratory indices captured by polysomnography (PSG) or respiratory polygraphy (PG). Aim We aimed to evaluate the performanc...
Article
Video-polysomnography (v-PSG) is essential for diagnosing rapid eye movement (REM) sleep behavior disorder (RBD). Although there are current American Academy of Sleep Medicine standards to diagnose RBD, several aspects need to be addressed to achieve harmonization across sleep centers. Prodromal RBD is a stage in which symptoms and signs of evolvin...
Article
Video-polysomnography (v-PSG) is essential for diagnosing rapid eye movement (REM) sleep behavior disorder (RBD). Although there are current American Academy of Sleep Medicine standards to diagnose RBD, several aspects need to be addressed to achieve harmonization across sleep centers. Prodromal RBD is a stage in which symptoms and signs of evolvin...
Article
Background: PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy. Objective: To examine the role of PSAP mutations in iRBD. Methods: We fully sequenced PSAP and performed Optimized Sequence K...
Article
Introduction Altered brain activity and functional reorganization patterns during self-initiated movements have been reported in early pre-motor and motor stages of Parkinson's disease. The aim of this study was to investigate whether similar alterations can be observed in patients with idiopathic REM-sleep behavior disorder (RBD). Methods 13 poly...
Preprint
Full-text available
REM sleep behavior disorder (RBD) represents both an early marker and key symptom of synucleinopathies, mainly Parkinson disease (PD) and Lewy body dementia (LBD), and a strong opportunity for early clinical intervention for these conditions. Yet, the genetics of RBD are currently not well characterized. In this study, we perform the first genome-w...
Article
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Purpose In neuromuscular disorders (NMD), inspiratory muscle weakness may cause sleep-related hypoventilation requiring non-invasive ventilation (NIV). Alternatively, nasal high flow therapy (NHF) may ameliorate mild nocturnal hypercapnia (NH) through washout of anatomical dead space and generation of positive airway pressure. Ventilatory support b...
Article
Objective Anti-IgLON5 disease is a recently described neurological disease that shares features of autoimmunity and neurodegeneration. Abnormal movements appear to be frequent and important but have not been characterized and are under-reported. Here we describe the frequency and types of movement disorders in a series of consecutive patients with...
Preprint
Full-text available
PSAP encodes saposin C, the co-activator of glucocerebrosidase, encoded by GBA. Since GBA mutations are associated with idiopathic/isolated REM sleep behavior disorder (iRBD), a prodromal stage of synucleinopathy, we examined the role of PSAP mutations in iRBD. We fully sequenced PSAP and performed Optimized Sequence Kernel Association Test in 1,11...
Article
Objectives To evaluate skin biopsies of patients with early- and late onset restless legs syndrome (RLS) for concomitant small fiber neuropathy (SFN) and to determine cutaneous sympathetic innervation and microvascularization in comparison to healthy individuals. Methods Density of intraepidermal nerve fibers (IENFD), adrenergic nerve fibers and d...
Article
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 prod...
Article
ZUSAMMENFASSUNG Die Rapid-Eye-Movement (REM)-Schlafverhaltensstörung (RBD) ist eine Parasomnie, bei der es zu einem unwillkürlichen Ausleben von Trauminhalten während des REM-Schlafes kommt. Die physiologische Muskelatonie während des REM-Schlafes ist aufgehoben. Die Mehrheit (> 90 %) der Patienten mit einer isolierten RBD (iRBD) entwickeln im weit...
Article
ZUSAMMENFASSUNG Das Restless-legs-Syndrom (RLS) ist eine der häufigsten neurologischen Erkrankungen. Gutachterliche Fragestellungen bei RLS-Patienten nehmen seit den vergangenen Jahren stetig zu. Daher hat die AG Motorik und Schlaf der Deutschen Gesellschaft für Schlafforschung und Schlafmedizin (DGSM) 2006 erstmals Empfehlungen zur Begutachtung un...
Article
Full-text available
In crimes facilitated by γ‐hydroxybutyric acid (GHB) administration, the frequent occurrence of anterograde amnesia of the victims as well as the short detection window and variations of endogenous GHB concentrations complicate obtaining analytical proof of GHB administration. Because elevated endogenous organic acid concentrations have been found...
Article
Study objectives To evaluate interrater reliability for artefact correction in the context of semi-automated quantification of rapid eye movement (REM) sleep without atonia (RWA) in the mentalis and flexor digitorum superficialis (FDS) muscles. Methods We included video-polysomnographies of 14 subjects with apnea-hypopnea-index in REM sleep (AHIRE...
Article
Full-text available
Background: Augmentation (AUG) in patients with restless legs syndrome (RLS) can be associated with impulse control disorder (ICD) symptoms, such as compulsive sexual behavior, gambling disorder or compulsive shopping. In this study, we wanted to assess whether RLS patients with AUG differ in decision making from those patients who have augmentati...
Article
STUDY OBJECTIVES:To evaluate inter-rater reliability (IRR) between manual sleep stage scoring performed in two European sleep centers and automatic sleep stage scoring performed by the previously validated artificial intelligence-based Stanford-STAGES algorithm (Stephansen et al., 2018). METHODS: Full night polysomnographies of 1066 participants w...
Article
Objective Sleep complaints are frequent after acute COVID-19. Aim of this study was to videopolysomnographically evaluate sleep and sleep disorders after SARS-Cov2 infection. Methods Patients with suspected sleep disorders after acute COVID-19 underwent video-polysomnography (v-PSG) at the Sleep Disorders Clinic, Department of Neurology, Medical U...
Article
We sought to gain a better understanding of the relationship between epilepsy and sleep quality and daytime sleepiness by performing a literature search of PubMed for case-control studies that compared patients with epilepsy to controls and reported the Pittsburgh sleep quality index (PSQI) and/or the Epworth sleepiness scale (ESS). Study-specific...
Article
Full-text available
Objective: To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated rapid-eye-movement (REM) sleep behavior disorder (iRBD). Methods: We fully sequenced 25 genes previously identified in GWASs of PD, in a total of 1,039 iRBD patients and 1,852 controls. The role of ra...
Article
Objectives/Background Most middle-aged and older adult patients with isolated (idiopathic) REM sleep behavior disorder (RBD) eventually develop parkinsonism, dementia with Lewy bodies, or multiple system atrophy. We aimed to describe the current sleep medicine specialist approach toward RBD prognostic counseling, and to determine physician beliefs...
Article
BACKGROUND Functional connectivity studies revealed alterations within thalamic, salience, and default mode networks in restless legs syndrome patients. METHODS 82 patients with restless legs syndrome (untreated, n=30; on dopaminergic medication, n=42; on alpha-2-delta ligands as mono- or polytherapy combined with dopaminergic medication, n=10) an...
Article
Background: There is only partial overlap in the genetic background of isolated rapid‐eye‐movement sleep behavior disorder (iRBD) and Parkinson's disease (PD). Objective: To examine the role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. Methods: Ten genes, comprising the recessive genes PRKN, DJ‐1 (PARK7...
Article
Study objectives: Rapid-eye-movement sleep behavior disorder (RBD) is considered a prodromal state of Parkinson's disease (PD). We aimed to characterize patterns of structural brain changes in RBD and PD patients using multimodal MRI. Methods: Thirty patients with isolated RBD, 29 patients with PD, and 56 age-matched healthy controls (HC) underw...
Article
We thank Dr. Spector for his comments on our article. We agree that focusing on Europeans is a limitation of our study, which should have been mentioned as a limitation in the discussion. In genetic studies, to minimize bias of results due to different variant frequencies in different ethnicities, it is best practice to analyze samples of similar g...
Article
Objective: To evaluate sleep disorders and chronotype in patients with drug resistant focal and generalised epilepsy compared to healthy controls. Methods: Sixty four patients with focal and six with generalised, drug resistant epilepsy were included and compared to 70 age- and gender-matched healthy controls. Patients with any relevant comorbid...
Article
Full-text available
The role of central sleep apnea (CSA) in pacing-induced cardiomyopathy (PICM) remains speculative. In a prospective trial entitled UPGRADE, the presence of CSA was assessed by single-night polysomnography (PSG) in 54 PICM patients within 1 month after left ventricular lead implantation (with biventricular stimulation still not activated). CSA was d...
Article
Study objectives: Reduced gray matter volume in the posterior cingulate cortex (PCC) has recently been found in patients with NREM parasomnia, providing a neuroanatomical substrate for the arousal state dissociation. It remains unclear whether PCC changes in NREM parasomnias might also play a role for cognitive or affective dysfunction in these pa...
Preprint
Full-text available
Objective To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated rapid-eye-movement (REM) sleep behavior disorder (iRBD). Methods We fully sequenced 25 genes previously identified in GWASs of PD, in a total of 1,039 iRBD patients and 1,852 controls. The role of rare...
Article
Full-text available
Objective To study the role of GBA variants in the risk for isolated rapid-eye-movement (REM)-sleep behavior disorder (iRBD) and conversion to overt neurodegeneration. Methods A total of 4,147 individuals were included: 1,061 iRBD patients and 3,086 controls. GBA was fully sequenced using molecular inversion probes and Sanger sequencing. We analyz...
Article
Funding Acknowledgements ÖNB Jubiläumsfondsprojekt Nr. 15974, ISR grant by Boston Scientific, St. Paul, MN, USA Background Central sleep apnea (CSA) in pacing induced cardiomyopathy (PICM) is poorly studied. Specifically, it is unknown whether upgrading from right ventricular pacing (RVP) to cardiac resynchronisation therapy (CRT) improves CSA. M...
Article
Introduction Functional brain connectivity studies revealed alterations within thalamic, salience, and default mode networks in patients with restless legs syndrome. The objective of this study was to characterize functional connectivity and network topology in a large cohort of patients with restless legs syndrome compared to healthy controls, and...
Article
Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). In the current study we aimed to evaluate the role of SMPD1 variants in iRBD. SMPD1 and its untranslated regions were sequenced using targeted next-generation sequencing in 959 iRBD patients...
Preprint
Full-text available
Objective: To examine the role of autosomal dominant (AD) and recessive (AR) Parkinsonism genes in the risk of isolated rapid-eye-movement (REM) sleep behavior disorder (iRBD). Methods: Ten genes implicated in AD and AR Parkinsonism were fully sequenced using targeted next-generation sequencing in 1,039 iRBD patients and 1,852 controls of European...
Article
Full-text available
Purpose of the review Cataplexy, an involuntary loss of muscle activity triggered by strong emotions is the most impressive symptom in narcolepsy. This review gives an overview of the current understanding of cataplexy and its available treatment options. Recent findings With the discovery of hypocretin/orexin, the understanding of the pathophysio...
Preprint
Full-text available
Mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene were reported to be associated with Parkinson disease (PD) and dementia with Lewy bodies (DLB). The majority of patients with isolated rapid eye movement sleep behavior disorder (iRBD) develop PD or DLB later in life, suggesting that iRBD is a prodromal phase of these two conditions. I...
Article
Objective: REM‐sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in‐depth analysis of the SNCA locus to identify RBD‐specific risk variants. Methods: Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n=1,076), Parkinson's disea...
Conference Paper
Objective: a). Identify variants in the SNCA locus which affect risk for REM Sleep Behavior Disorder (RBD). b). Test variant effects on rate and type of conversion to Parkinson's disease (PD) and other syn-ucleinopathies. c). Compare SNCA genetic risk of RBD and the conditions to which it converts. Background: SNCA is a shared genetic risk factor a...
Preprint
Full-text available
Objective: To study the role of GBA variants in the risk for isolated rapid-eye-movement (REM)-sleep behavior disorder (iRBD) and conversion to overt neurodegeneration. Methods: A total of 4,147 individuals were included: 1,061 iRBD patients and 3,086 controls. GBA was fully sequenced using molecular inversion probes and Sanger sequencing. We analy...
Article
Full-text available
Objectives: We investigated the associations with HLA and microtubule-associated protein tau (MAPT) H1 haplotype in anti-IgLON5 disease, a recently identified disorder characterized by gait instability, brainstem dysfunction, and a prominent sleep disorder in association with IgLON5 antibodies and pathologic findings of a novel neuronal-specific t...
Article
Objective: The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome-wide association studies (GWAS) of Parkinson disease (PD). We aimed to identify the specific disease-associated variants in this locus, and their potential implications. Methods: Full sequencing of TMEM175/GAK/DGKQ, followed by genotyping of specific associated varia...
Preprint
Full-text available
Objective: REM-sleep behavior disorder (RBD) is a prodromal synucleinopathy, as >80% will eventually convert to overt synucleinopathy. We performed an in-depth analysis of the SNCA locus to identify RBD-specific risk variants. Methods: Full sequencing and genotyping of SNCA was performed in isolated/idiopathic RBD (iRBD, n=1,076), Parkinson's disea...
Article
Full-text available
Purpose Severe manifestations of facioscapulohumeral dystrophy (FSHD) may be associated with sleep-disordered breathing (SDB), including obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH), but prevalence data are scarce. In patients with respiratory muscle weakness, detection of NH can be facilitated by transcutaneous capnometry, but...
Article
Mit einer geschätzten Prävalenz von 0,005 % ist die idiopathische Hypersomnie eine extrem seltene Erkrankung. Sie gehört zu der Gruppe der Hypersomnolenzerkrankungen zentralen Ursprungs mit dem krankheitsdefinierenden Symptom der exzessiven Tagesschläfrigkeit. Trotz verschiedener neuroendokriner, immunologischer und genetischer Erklärungsansätze, d...
Article
Study Objectives Integrated information on brain microstructural integrity and iron storage and its impact on the morphometric profile is not available in restless legs syndrome (RLS). We applied multimodal magnetic resonance imaging (MRI) including diffusion tensor imaging, the transverse relaxation rate (R2*), a marker for iron storage, as well a...
Article
Introduction Integrated information on brain microstructural integrity and iron storage and its imp