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Article
Open AccessBrainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report
We present the case of a 24-year-old male with CNS granulomatosis due to an immunodeficiency syndrome which was identified as deficiency of adenosine deaminase 2 (DADA2) as a cause of brainstem infarction.
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Article
Open AccessEconomic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany
Motor Neuron Diseases (MND) are rare diseases but have a high impact on affected individuals and society. This study aims to perform an economic evaluation of MND in Germany.
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Article
Open Access„Essener Transitionsmodell“ bei neuromuskulären Erkrankungen
Durch die Optimierung medizinischer Versorgungsstrukturen und die gravierenden Fortschritte bei der Entwicklung neuer Therapieverfahren wird ein Anstieg der Lebenserwartung bei Patienten mit neuromuskulären Er...
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Article
Open AccessEssen transition model for neuromuscular diseases
With the optimization of medical care structures and the rapid progress in the development of new therapeutic methods, an increase in life expectancy is observed in patients with neuromuscular diseases. This l...
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Article
Open AccessPredictors of Early Neurological Improvement in Patients with Anterior Large Vessel Occlusion and Successful Reperfusion Following Endovascular Thrombectomy—Does CT Perfusion Imaging Matter?
We aimed to investigate treatment effect of endovascular thrombectomy (EVT) on the change of National Institutes of Health Stroke Scale (NIHSS) scores in acute ischemic stroke (AIS) patients with anterior larg...
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Article
Open AccessNusinersen treatment in adult patients with spinal muscular atrophy: a safety analysis of laboratory parameters
Nusinersen is an intrathecally administered antisense oligonucleotide (ASO) that improves motor function in patients with spinal muscular atrophy (SMA). In addition to efficacy, the safety of a therapy is the ...
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Article
Open AccessPrevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas
Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare, genetically heterogenous, and clinically variable autosomal dominant disease that severely reduces life expectancy. As treatment options grow,...
