Marcus Deschauer
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View article: Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q‐Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study
Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q‐Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study Open
Background This study aimed to evaluate changes in compound muscle action potential (CMAP) amplitude in adults with spinal muscular atrophy (SMA) undergoing nusinersen treatment and its association with motor function improvements. Methods…
View article: MCUR1–CCDC90B complex is a conserved mitochondrial scaffold regulating metabolic homeostasis
MCUR1–CCDC90B complex is a conserved mitochondrial scaffold regulating metabolic homeostasis Open
The mitochondrial calcium uniporter regulator 1 (MCUR1) is an evolutionarily conserved protein of the inner mitochondrial membrane 1 , yet its physiological role has remained elusive. Although initially proposed to function as a subunit of…
View article: The Diverse Neuromuscular Spectrum of <scp>VPS13A</scp> Disease
The Diverse Neuromuscular Spectrum of <span>VPS13A</span> Disease Open
Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of t…
View article: Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study Open
Background and objectives The severity of the phenotype of spinal muscular atrophy (SMA) is highly variable, yet little is known about the phenotypic variation among siblings. We systematically investigated the phenotypic variability of th…
View article: Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen – a multicenter observational study
Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen – a multicenter observational study Open
Background Natural history data show that respiratory function is impaired in SMA patients. Observational studies have shown stabilization of respiratory function in adult SMA patients treated with nusinersen. However, long-term studies in…
View article: Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy Open
VPS13A disease (chorea-acanthocytosis), is an ultra-rare autosomal recessive neurodegenerative disorder caused by mutations of the VPS13A gene encoding Vps13A. Increased serum levels of the muscle isoform of creatine kinase associated with…
View article: Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine
Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine Open
Background Quantitative muscle water T2 (T2 w ) mapping is regarded as a biomarker for disease activity and response to treatment in neuromuscular diseases (NMD). However, the implementation in clinical settings is limited due to long scan…
View article: Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen
Long-Term Dynamics of CSF and Serum Neurofilament Light Chain in Adult Patients With 5q Spinal Muscular Atrophy Treated With Nusinersen Open
NfL decreased during nusinersen treatment, suggesting its potential as a pharmacodynamic response marker in adult SMA. However, in patients without detectable clinical improvement, our study cannot determine whether they represent a more s…
View article: Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD Open
Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the diseas…
View article: Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial Open
Framework of the E-Rare Joint Transnational Call 2016 "Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases".
View article: Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study Open
Background Multiple sclerosis (MS) shares clinical/radiological features with several monogenic diseases that can mimic MS. Objective We aimed to determine if exome sequencing can identify monogenic diseases in patients diagnosed with MS a…
View article: Proteomic studies in <i>VWA1</i>‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Proteomic studies in <i>VWA1</i>‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers Open
Bi‐allelic variants in VWA1 , encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child‐ or adulthood. Clinical findings in…
View article: A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders Open
Mitochondrial DNA (mtDNA) deletions which clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impair mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions aris…
View article: 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2 Open
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2 , and there is no consensus within the SMA trea…
View article: Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study Open
Financial support for the registry from Biogen, Novartis and Roche.
View article: A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders Open
Mitochondrial DNA deletions clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impairing mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions originally aris…
View article: Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target
Multiomic ALS signatures highlight sex differences and molecular subclusters and identify the MAPK pathway as therapeutic target Open
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease and lacks effective disease-modifying treatments. Here, we performed a multiomic analysis of the prefrontal cortex of 51 patients with sporadic ALS and 50 control …
View article: Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen
Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen Open
In patients with spinal muscular atrophy (SMA) headache after intrathecal administration of nusinersen is usually attributed to post-lumbar puncture syndrome. However, lumbar puncture opening pressure (LOP) has also been reported to be inc…
View article: Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers—A Prospective, Cross-Sectional, Multi-Center Analysis
Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers—A Prospective, Cross-Sectional, Multi-Center Analysis Open
Spinal muscular atrophy (SMA) is a disabling disease that affects not only the patient’s health-related quality of life (HRQoL), but also causes a high caregiver burden (CGB). The aim of this study was to evaluate HRQoL, CGB, and their pre…
View article: Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis Open
Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With …
View article: Bi‐Allelic <scp><i>COQ4</i></scp> Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease
Bi‐Allelic <span><i>COQ4</i></span> Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease Open
Background COQ4 codes for a mitochondrial protein required for coenzyme Q 10 (CoQ 10 ) biosynthesis. Autosomal recessive COQ4 ‐associated CoQ 10 deficiency leads to an early‐onset mitochondrial multi‐organ disorder. Methods In‐house exome …
View article: Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T<sub>2</sub> in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases
Beyond mean value analysis – a voxel‐based analysis of the quantitative MR biomarker water T<sub>2</sub> in the presence of fatty infiltration in skeletal muscle tissue of patients with neuromuscular diseases Open
The main pathologies in the muscles of patients with neuromuscular diseases (NMD) are fatty infiltration and edema. Recently, quantitative magnetic resonance (MR) imaging for determination of the MR biomarkers proton density fat fraction (…
View article: Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy Open
5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines Agency and Food and Drug Administration for t…
View article: Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (<scp>NERD<sub>ND</sub></scp>): Time to Move Beyond the Skin
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (<span>NERD<sub>ND</sub></span>): Time to Move Beyond the Skin Open
Background Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies m…
View article: A Novel <scp><i>NPTX1</i> de novo</scp> Variant in a Late‐Onset Ataxia Patient
A Novel <span><i>NPTX1</i> de novo</span> Variant in a Late‐Onset Ataxia Patient Open
Recently, two missense mutations in NPTX1 were identified as a cause of autosomal dominant cerebellar ataxia by triggering endoplasmic reticulum stress.1 The NPTX1-encoded protein neuronal pentraxin 1 (NP1) is exclusively expressed in the …
View article: Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy Open
Objective Fatigue is a common and burdensome symptom of spinal muscular atrophy. Given its complex interactions, different dimensions of fatigue need to be investigated. The Multidimensional Fatigue Inventory is a widely used instrument th…