Alexander E. Volk
A5068163463- BRCA gene mutations in cancer
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Biomedical and Engineering Education
- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Mobile Health and mHealth Applications
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Prion Diseases and Protein Misfolding
- Delphi Technique in Research
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- RNA regulation and disease
- Quality and Safety in Healthcare
- Dementia and Cognitive Impairment Research
- Healthcare Technology and Patient Monitoring
- RNA Research and Splicing
- Genetic and Kidney Cyst Diseases
- Molecular Biology Techniques and Applications
- Hereditary Neurological Disorders
Universität Hamburg
2016-2025
University Medical Center Hamburg-Eppendorf
2016-2025
University Hospital Magdeburg
2025
Radboud University Nijmegen
2024
Radboud University Medical Center
2024
Czech Academy of Sciences
2023
Czech Academy of Sciences, Institute of Molecular Genetics
2023
National Cancer Centre Singapore
2023
Charles University
2023
General University Hospital in Prague
2023
<h3>Objectives</h3> Biomarkers for the diagnosis of motoneuron diseases (MND) are urgently needed to improve diagnostic pathway, patient stratification and monitoring. The aim this study was validate candidate markers MND in cerebrospinal fluid (CSF) specify cut-offs based on large cohorts by especially considering patients who were seen under initial differential (MND mimics). <h3>Methods</h3> In a prospective study, we investigated CSF 455 neurofilament light chain (NfL), phosphorylated...
Objective To determine the diagnostic and prognostic performance of serum neurofilament light chain (NFL) in amyotrophic lateral sclerosis (ALS). Methods This single-centre, prospective, longitudinal study included following patients: 124 patients with ALS; 50 without neurodegenerative diseases; 44 conditions differential diagnosis ALS (disease controls); 65 other diseases (20 frontotemporal dementia, 20 Alzheimer’s disease, 19 Parkinson’s 6 Creutzfeldt-Jakob disease (CJD)). Serum NFL levels...
Neurofilaments are elevated in the cerebrospinal fluid (CSF) and serum of amyotrophic lateral sclerosis (ALS) patients. However, timing this increase is unknown. To characterize premanifest disease phase, we performed a cross-sectional study on asymptomatic (n = 12) symptomatic 64) ALS mutation carriers family controls 19). NF-L (neurofilament-light chain) pNF-H (phosphorylated neurofilament-heavy normal before symptom onset increased by at least an order magnitude early CSF (pNF-H) or...
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift C-terminal domain KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together observation that many genes amyotrophic lateral sclerosis disrupt cytoskeletal function intracellular...
Atypical EGFR mutations occur in 10%-30% of non-small-cell lung cancer (NSCLC) patients with and their sensitivity to classical epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKI) is highly heterogeneous. Patients harboring one group uncommon, recurrent (G719X, S768I, L861Q) respond EGFR-TKI. Exon 20 insertions are mostly insensitive EGFR-TKI but display exon inhibitors. Clinical outcome data very rare point compound upon systemic treatments still sparse date.In this...
Abstract The prevalence of germ line mutations in non‐ BRCA 1/2 genes associated with hereditary breast cancer ( BC ) is low, and the role some these predisposition pathogenesis conflicting. In this study, 5589 consecutive index patients negative for pathogenic 2189 female controls were screened eight ATM , CDH 1 CHEK 2 NBN PALB RAD 51C 51D, TP 53 ). All met inclusion criteria German Consortium Hereditary Breast Ovarian Cancer testing. highest mutation was observed gene (2.5%), followed by...
<h3>Background</h3> The GGGGCC-repeat expansion in <i>C9orf72</i> is the most frequent mutation found patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of studies on have relied repeat-primed PCR (RP-PCR) methods for detection expansions. To investigate inherent limitations this technique, we compared results 14 laboratories. <h3>Methods</h3> laboratories genotyped DNA from 78 individuals (diagnosed ALS or FTD) a blinded fashion. Eleven used...
Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while role of breast (BC) pathogenesis remains controversial. To assess deleterious germline BC/OC predisposition, 6341 well-characterized index patients with BC, 706 OC, and 2189 geographically matched female controls were screened loss-of-function (LoF) potentially damaging missense variants. All met inclusion criteria German Consortium Hereditary Breast Ovarian Cancer testing...
Objective To investigate the role of neuroinflammation in asymptomatic and symptomatic amyotrophic lateral sclerosis (ALS) frontotemporal dementia (FTD) mutation carriers. Methods The neuroinflammatory markers chitotriosidase 1 (CHIT1), YKL-40 glial fibrillary acidic protein (GFAP) were measured cerebrospinal fluid (CSF) blood samples from ALS/FTD carriers, sporadic cases controls by ELISA. Results CSF levels CHIT1, GFAP unaffected carriers (n=16). CHIT1 increased gALS (p<0.001, n=65)...
The C9orf72 GGGGCC repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). Non-conventional translation results in five dipeptide proteins (DPRs), but their clinical utility, overall significance, temporal course the pathogenesis c9ALS/FTD are unclear, although animal models support gain-of-function mechanism. Here, we established poly-GP immunoassay from cerebrospinal fluid (CSF) to identify characterize patients. Significant levels were...
Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, atrial fibrillation. generated patient-derived human-induced pluripotent stem cells (hiPSCs) show that hiPSC-derived cardiomyocytes engineered heart tissues recapitulated several hallmarks of HCM, such as...
<h3>Objective</h3> To determine the association of serum neurofilament light chain (NfL) with functional deterioration and brain atrophy during follow-up patients behavioral variant frontotemporal dementia (bvFTD). <h3>Methods</h3> Blood NfL levels from 74 bvFTD, 26 Alzheimer disease (AD), 17 mild cognitive impairment (MCI), 15 healthy controls (Con) at baseline were determined analyzed for diagnostic potential in relation to assessment (Clinical Dementia Rating Scale Sum Boxes [CDR-SOB],...
Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture ALS a specific population will be important for counselling but also genotype-specific therapeutic interventions. Methods Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome to obtain...
Objective Reactive astrogliosis is a hallmark of Alzheimer’s disease (AD) and frontotemporal dementia (FTD) but differences between the diseases time course are unclear. Here, we used serum levels astroglial marker glial fibrillary acidic protein (GFAP) to investigate in patients with AD dementia, mild cognitive impairment (MCI)-AD behavioural variant FTD (bvFTD). Methods This multicentre study included samples from diagnosed (n=230), MCI-AD (n=111), bvFTD (n=140) controls (n=129). A...
Abstract Knowledge about the nature of pathomolecular alterations preceding onset symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave way for discovery valuable therapeutic targets but might also govern future concepts pre-manifest disease modifying treatments. MicroRNAs are central regulators transcriptome plasticity and participate pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles microRNAs serum...
To assess the utility of serum neurofilament for diagnosis and monitoring primary progressive aphasia (PPA) variants.We investigated light chain (NF-L) levels in blood 99 patients with PPA (40 nonfluent variant [nfvPPA], 38 semantic [svPPA], 21 logopenic [lvPPA]) compared diagnostic performance that reached by CSF NF-L, phosphorylated heavy (pNF-H), β-amyloid (Aβ1-42), tau, tau. The longitudinal change NF-L was measured analyzed correlation functional decline brain atrophy.Serum is increased...
Information on circulating miRNAs in frontotemporal lobar degeneration is very limited and conflicting results have complicated an interpretation Alzheimer's disease thus far. In the present study we I) collected samples from multiple clinical centers across Germany, II) defined 3 homogenous patient groups with high sample sizes (bvFTD n = 48, AD 48 cognitively healthy controls 44), III) compared expression levels both CSF serum IV) detected a set of by using MIQE compliant protocol based...