Neuromuscular Diseases
OVERVIEW
This recently established research group focuses on diseases of the peripheral nervous system. Peripheral nerve disorders encompass a spectrum of heterogeneous disorders of inflammatory, toxic, degenerative or metabolic origin. Polyneuropathies are highly prevalent and represent the most common neurological sequelae in many systemic disorders such as diabetes, alcoholism, HIV or hepatitis infection, leukemia and other oncological diseases. Currently, we have three main fields of interests:
Immune-mediated neuropathies: Immune-mediated neuropathies are acute or chronic inflammatory neuropathies that can be distinguished by clinical symptoms, electrophysiology, cerebrospinal fluid, and autoantibody profiles. In close collaboration with the Department of Neuroradiology (www.klinikum.uni-heidelberg.de/MR-Neurographie.116270.0.html), we aim at defining more sensitive diagnostic parameters to detect lesions to the peripheral nervous system at possibly early stages of the disease and to predict response to different therapeutic options as well as to the clinical outcome more reliably. The main area of interest lies on axonal and demyelinating Guillain-Barré syndromes and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) including its diverse variants such as multifocal motor neuropathy (MMN) or multifocal acquired demyelinating sensory and motor (MADSAM) neuropathy.
Chemotherapy-induced polyneuropathy: About thirty percent of all cancer patients receiving chemotherapy suffer from chemotherapy-induced peripheral neuropathy (CIPN), which makes CIPN one of the most significant side effects of many widely used antineoplastic drugs. CIPN is often dose-limiting and severely affects the quality of life in cancer survivors. Several classes of chemotherapeutic drugs are associated with CIPN, including platinum compounds, vinca alkaloids, taxanes, bortezomib, suramin, thalidomide, and lenalidomide. We collaborate with the Department of Medical Oncology at the National Center of Tumor Diseases (NCT) Heidelberg (www.nct-heidelberg.de/das-nct/kernbereiche/medizinische-onkologie.html) on a randomized controlled sports intervention trial on the prevention of chemotherapy-induced polyneuropathy through physical training (PIC trial; www.nct-heidelberg.de/das-nct/kernbereiche/medizinische-onkologie/aktivitaeten/onkologische-sport-und-bewegungstherapie/pic-studie.html).
Complex regional pain syndrome: Complex regional pain syndrome (CRPS) is a chronic pain condition most often affecting one of the limbs (arms, legs, hands, or feet), usually after an injury or trauma to that limb. Our research investigates the validity of the two known different forms, CRPS-I and CRPS-II, applying clinical, neurophysiological and imaging techniques as well as quantitative sensory testing (QST).
SELECTED PUBLICATIONS
Kessler T, Sam G, Wick W, Weiler M. Evaluation of risdiplam efficacy in 5q spinal muscular atrophy: A systematic comparison of electrophysiologic with clinical outcome measures. Eur J Neurol 2024;31(1):e16099
Müller J, Kreutz C, Ringhof S, Koeppel M, Kleindienst N, Sam G, Schneeweiss A, Wiskemann J, Weiler M. Chemotherapy-induced peripheral neuropathy: longitudinal analysis of predictors for postural control. Sci Rep 2021;11(1):2398
Kessler T, Latzer P, Schmid D, Warnken U, Saffari A, Ziegler A, Kollmer J, Möhlenbruch M, Ulfert C, Herweh C, Wildemann B, Wick W, Weiler M. Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy. J Neurochem 2020;153(5):650-661
Kollmer J, Hilgenfeld T, Ziegler A, Saffari A, Sam G, Hayes JM, Pietsch A, Jost M, Heiland S, Bendszus M, Wick W, Weiler M. Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy. Neurology 2019;93(7):e653-e664
Kollmer J, Sahm F, Hegenbart U, Purrucker JC, Kimmich C, Schönland SO, Hund E, Heiland S, Hayes JM, Kristen AV, Röcken C, Pham M, Bendszus M, Weiler M. Sural nerve injury in familial amyloid polyneuropathy: MR neurography vs clinicopathologic tools. Neurology 2017;89(5):475-484
Bäumer P, Pham M, Ruetters M, Heiland S, Heckel A, Radbruch A, Bendszus M, Weiler M. Peripheral neuropathy: detection with diffusion-tensor imaging. Radiology 2014;273(1):185-93
Complete list of publications: Pubmed