Publications by authors named "Annette Baumgartner"

Article Synopsis
  • The German Academy for Rare Neurological Diseases (DASNE) was established in 2017 to improve personalized care for patients with rare neurological diseases (RND) by creating a national network of expert professionals.
  • A collaborative Delphi process engaged 37 experts and stakeholders to identify and rank key topics for optimal patient care, resulting in a set of 38 recommendations.
  • The finalized recommendations cover various aspects of RND management, including healthcare structure, interdisciplinary collaboration, diagnostics, and patient advocacy, aimed at enhancing the overall treatment landscape for these conditions.
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Background: Previous studies have postulated that four structural compartments may be differentiated in hair: surface protein domain, water-accessible protein domain, water-inaccessible protein domain, and melanin. Drugs contained in blood, sweat, sebum, and environment would be deposited in the first two domains, with primarily drugs in blood being incorporated in the latter two domains during hair synthesis. Drugs in the first two domains would be removed by washing procedures.

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Background: Since the detection of autoantibodies against neuronal surface antigens, autoimmune encephalitis (AE) has been more frequently diagnosed, especially in patients with symptoms typical of limbic encephalitis, such as seizures, short-term memory deficits, or psychosis. However, the clinical spectrum of AE may be much wider, making correct clinical diagnosis difficult.

Methods: We retrospectively analysed symptoms and admission diagnoses at first clinical presentation in 50 AE patients.

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Objectives: Although interferon-beta is an established drug for relapsing remitting multiple sclerosis (RRMS), its impact on neuronal activity is not well understood.

Methods: We investigated 15 patients with RRMS by [ F]fluorodeoxyglucose positron emission tomography (FDG-PET) to assess cerebral metabolic rate of glucose (CMR ) before interferon-beta therapy. Further, we performed clinical and neuropsychological investigations.

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Schizophreniform syndromes in combination with autoimmune thyroiditis and increased serum thyroid antibodies lead healthcare practitioners to consider a diagnosis of Hashimoto's encephalopathy. To detect specific biomarkers, the authors analyzed whether intrathecal antithyroid antibody synthesis occurred in a subgroup of schizophreniform patients. In doing so, the authors analyzed thyroid antibodies in paired cerebrospinal fluid and serum samples from 100 schizophreniform patients.

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Aneurysmal subarachnoid haemorrhage (SAH) and cerebral venous thrombosis (CVT) are rare cerebrovascular pathologies. Here, we report the extremely rare coincidental presentation of both entities and discuss the likely relationship in aetiology and their optimal management. A female patient presented with headache and progressive neurological deficits.

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Background: Depression is the most prevalent psychiatric disease. In addition to primary, idiopathic depression, there are multiple secondary organic forms. However, distinguishing the two can be difficult, information about cerebrospinal fluid (CSF) basic findings in patients with depressive syndromes is sparse.

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Immunological mechanisms and therapy approaches in psychotic syndromes were recently supported by the discovery of autoantibody-associated limbic and non-limbic encephalitis. However, how clinical diagnostic procedures in psychiatry should be adapted to these new insights is still unclear. In this study, we analyzed the cerebrospinal fluid (CSF) and neuroimmunological alterations and their association with cerebral MRI (cMRI) and electroencephalographic (EEG) findings.

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The prognosis and impact of residual symptoms on quality of life in patients with Lyme neuroborreliosis (LNB) is subject to debate. The aim of this study was to assess quality of life, fatigue, depression, cognitive impairment and verbal learning in patients with definite LNB and healthy controls in a case-control study. We retrospectively identified all patients diagnosed with definite LNB between 2003 and 2014 in our tertiary care center.

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Objectives: Fingolimod is a well-established, highly effective immunomodulatory treatment for patients with relapsing-remitting multiple sclerosis (RRMS). However, little is known about disease course after its discontinuation.

Methods: This is a case series on four patients with RRMS who had a severe reactivation after fingolimod discontinuation.

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Purpose: L-dopa has been shown to improve outcome of moderate-intensity language training after stroke in acute aphasia. Given the critical role of training intensity we probed the effect of l-dopa in combination with high-intensity language training in chronic post-stroke aphasia.

Methods: In this prospective, randomized, placebo-controlled, double-blind study, aphasia patients (>1 year post stroke) were administered 100/25 mg of l-dopa/carbidopa or placebo daily prior to four hours of language training for two weeks.

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In parallel to the detection of new neuronal autoantibodies, the diagnosis of non-infectious limbic encephalitis has risen. Given that cerebral imaging studies show highly variable results, the present retrospective study investigates imaging findings in association with autoantibody type. An institutional database search identified 18 patients with non-infectious limbic encephalitis who had undergone [18F] fluorodeoxyglucose positron emission tomography (FDG-PET).

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ABSTRACT Naitalizumab is a potent monoclonal antibody approved for the treatment of relapsing-remitting multiple sclerosis (MS); however, little is known about the course of disease after cessation of therapy. The few existing reports describe different courses of disease after treatment discontinuation. Here we report on four MS patients who experienced clear clinical and radiological reactivation of the disease several months after cessation of therapy with natalizumab (15-29 months).

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Aphasia after middle cerebral artery (MCA) stroke shows highly variable degrees of recovery. One possible explanation may be offered by the variability of the occlusion location. Branches from the proximal portion of the MCA often supply the mesial temporal lobe including parts of the hippocampus, a structure known to be involved in language learning.

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Background: To date, functional imaging studies of treatment-induced recovery from chronic aphasia only assessed short-term treatment effects after intensive language training. In the present study, we show with functional magnetic resonance imaging (fMRI), that different brain regions may be involved in immediate versus long-term success of intensive language training in chronic post-stroke aphasia patients.

Results: Eight patients were trained daily for three hours over a period of two weeks in naming of concrete objects.

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A motor component is pre-requisite to any communicative act as one must inherently move to communicate. To learn to make a communicative act, the brain must be able to dynamically associate arbitrary percepts to the neural substrate underlying the pre-requisite motor activity. We aimed to investigate whether brain regions involved in complex gestures (ventral pre-motor cortex, Brodmann Area 44) were involved in mediating association between novel abstract auditory stimuli and novel gestural movements.

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Three-dimensional magnetic resonance imaging of the brain was analyzed using optimized voxel-based morphometry in 21 patients with pure hereditary spastic paraparesis (pHSP) and 12 patients with complicated HSP (cHSP). PHSP patients showed only small regional grey matter volume reduction, whereas significantly decreased grey matter volumes were localized pericentrally in cHSP. In the white matter, several small areas of regional volume reduction were observed in the pHSP patients, whereas the cHSP group exhibited large robust volume reduction involving the entire corpus callosum, a result that was reproduced by an additional region-based MRI analysis.

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The heterogeneous group of hereditary spastic paraparesis (HSP) is characterized by spastic paraparesis and was classified clinically into pure (pHSP) and complicated (cHSP) subtypes. Whereas cHSP is often associated with cognitive impairment, little is known about the cognitive performance in pHSP. Using a case-control study design, a cohort of 20 pHSP and 9 cHSP patients was assessed neuropsychologically.

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Neuropathological studies of hereditary spastic paraparesis (HSP) have described axonal loss involving corticospinal and somatosensory tracts in the spinal cord. This MRI-based study was intended to investigate in vivo diameter alterations of the spinal cord in HSP, including both pure HSP (p-HSP, n = 20) and complicated HSP (c-HSP, n = 10). Standard MRI examinations of the cervical and thoracic spinal cord in HSP patients and a control group (n = 54) were analyzed by standardized spinal cord planimetry.

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