Research fellow at the Institute of Neurogenetics, University of Lübeck; Resident, Department of Neurology, University Hospital Schleswig-Holstein Campus Lübeck.

Mitochondrial dysfunction (sysmedPD.eu) and reduced penetrance (protect-move.de) in genetic Parkinson's disease

10/2009-07/2017 Studies in medicine (University of Lübeck, FZ Borstel, Bürgerspital Solothurn (University of Bern, Switzerland))

2017: Schleswig-Holstein College of Physicians General License

09/2017-present Clinician scientist at the Institute of Neurogenetics, University of Lübeck 

09/2018-present Neurologist in training at the Department of Neurology, University Hospital Schleswig-Holstein Campus Lübeck

Thesis

2022: Medical Thesis Defense: „The role of CD8+ Dentritic Cells in the Pathogenesis of Experimental Cerebral Malaria” (Prof. A. Hörauf, Institute of Medical Microbiology, Immunology and Parasitology, University of Bonn)

Funder: University of Lübeck
Type: Clinician Scientist School Lübeck (CSSL)
Funding period: 01/2023 – 12/2024
Amount: 94,000 €

Award “Videoforum Bewegungsstörungen”, Annual Meeting of the German Neurological Society (DGN)

German Neurological Society (DGN)

Movement Disorder Society (MDS)

Ad-hoc reviewer for Neurobiology of Diseases, Frontiers in Neurology, Neurological Research and Practice, Annals of Clinical and Translational Neurology, and Journal of Neurology.

  1. Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt EJ, Laabs BH, Paul JJ, Curado F, Skobalj S, Gaber H, Olmedillas M, Bogdanovic X, Ameziane N, Schell N, Aasly JO, Afshari M, Agarwal P, Aldred J, Alonso-Frech F, Anderson R, Araújo R, Arkadir D, Avenali M, Balal M, Benizri S, Bette S, Bhatia P, Bonello M, Braga-Neto P, Brauneis S, Cardoso FEC, Cavallieri F, Classen J, Cohen L, Coletta D, Crosiers D, Cullufi P, Dashtipour K, Demirkiran M, de Carvalho Aguiar P, De Rosa A, Djaldetti R, Dogu O, Dos Santos Ghilardi MG, Eggers C, Elibol B, Ellenbogen A, Ertan S, Fabiani G, Falkenburger BH, Farrow S, Fay-Karmon T, Ferencz GJ, Fonoff ET, Fragoso YD, Genç G, Gorospe A, Grandas F, Gruber D, Gudesblatt M, Gurevich T, Hagenah J, Hanagasi HA, Hassin-Baer S, Hauser RA, Hernández-Vara J, Herting B, Hinson VK, Hogg E, Hu MT, Hummelgen E, Hussey K, Infante J, Isaacson SH, Jauma S, Koleva-Alazeh N, Kuhlenbäumer G, Kühn A, Litvan I, López-Manzanares L, Luxmore M, Manandhar S, Marcaud V, Markopoulou K, Marras C, McKenzie M, Matarazzo M, Merello M, Mollenhauer B, Morgan JC, Mullin S, Musacchio T, Myers B, Negrotti A, Nieves A, Nitsan Z, Oskooilar N, Öztop-Çakmak Ö, Pal G, Pavese N, Percesepe A, Piccoli T, Pinto de Souza C, Prell T, Pulera M, Raw J, Reetz K, Reiner J, Rosenberg D, Ruiz-Lopez M, Ruiz Martinez J, Sammler E, Santos-Lobato BL, Saunders-Pullman R, Schlesinger I, Schofield CM, Schumacher-Schuh AF, Scott B, Sesar Á, Shafer SJ, Sheridan R, Silverdale M, Sophia R, Spitz M, Stathis P, Stocchi F, Tagliati M, Tai YF, Terwecoren A, Thonke S, Tönges L, Toschi G, Tumas V, Urban PP, Vacca L, Vandenberghe W, Valente EM, Valzania F, Vela-Desojo L, Weill C, Weise D, Wojcieszek J, Wolz M, Yahalom G, Yalcin-Cakmakli G, Zittel S, Zlotnik Y, Kandaswamy KK, Balck A, Hanssen H, Borsche M, Lange LM, Csoti I, Lohmann K, Kasten M, Brüggemann N, Rolfs A, Klein C, Bauer P. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study. Brain 2024;8:2652-2667.
  2. Käding N, Waldeck F, Meier B, Boutin S, Borsche M, Balck A, Föh B, Kramer J, Klein C, Katalinic A, Rupp J. Influence of non-pharmaceutical interventions during the COVID-19 pandemic on respiratory viral infections – a prospective population-based cohort study. Front Public Health 2024:1415778.
  3. Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S, Corvol JC, French Parkinson disease Genetics Study Group (PDG). Genotype-phenotype correlation in PRKN-associated Parkinson's disease. NPJ Parkinsons Dis 2024;1:72.
  4. Kluge A, Borsche M, Streubel-Gallasch L, Gül T, Schaake S, Balck A, Prasuhn J, Campbell P, Morris HR, Schapira AH, Lohmann K, Brüggemann N, Rakovic A, Seibler P, Başak AN, Berg D, Klein C. α-Synuclein Pathology in PRKN-Linked Parkinson's Disease: New Insights from a Blood-Based Seed Amplification Assay. Ann Neurol 2024;6:1173-1177.
  5. Milovanović A, Dragaševic-Mišković N, Thomsen M, Borsche M, Hinrichs F, Westenberger A, Klein C, Brüggemann N, Branković M, Marjanović A, Svetel M, Kostić VS, Lohmann K. RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia. Mov Disord Clin Pract 2024;in press.
  6. Diaw SH, Borsche M, Streubel-Gallasch L, Dulovic-Mahlow M, Hermes J, Lenz I, Seibler P, Klein C, Brüggemann N, Vos M, Lohmann K. Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease. NPJ Parkinsons Dis 2023;1:148.
  7. Borsche M, Thomsen M, Szmulewicz DJ, Lübbers B, Hinrichs F, Lockhart PJ, Lohmann K, Helmchen C, Brüggemann N. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B. J Neurol 2023;in press.
  8. Lange B, Jaeger VK, Harries M, Rücker V, Streeck H, Blaschke S, Petersmann A, Toepfner N, Nauck M, Hassenstein MJ, Dreier M, von Holt I, Budde A, Bartz A, Ortmann J, Kurosinski MA, Berner R, Borsche M, Brandhorst G, Brinkmann M, Budde K, Deckena M, Engels G, Fenzlaff M, Härtel C, Hovardovska O, Katalinic A, Kehl K, Kohls M, Krüger S, Lieb W, Meyer-Schlinkmann KM, Pischon T, Rosenkranz D, Rübsamen N, Rupp J, Schäfer C, Schattschneider M, Schlegtendal A, Schlinkert S, Schmidbauer L, Schulze-Wundling K, Störk S, Tiemann C, Völzke H, Winter T, Klein C, Liese J, Brinkmann F, Ottensmeyer PF, Reese JP, Heuschmann P, Karch A. Estimates of protection levels against SARS-CoV-2 infection and severe COVID-19 in Germany before the 2022/2023 winter season: the IMMUNEBRIDGE project. Infection 2023;in press.
  9. Borsche M, Berg D. Blood-Based α-Synuclein Seeding-A New Era for Identifying Parkinsonian Syndromes. Mov Disord 2023;8:1397-1398.
  10. Usnich T, Hauptmann B, Hanssen H, Prasuhn J, Balck A, Borsche M, Tadic V, Klee A, Noblejas-Sanchez G, Vollstedt EJ, Klein C, Brüggemann N, Kasten M, EPIPARK Study Group. Depressive symptoms in Parkinson's disease are insufficiently but more often treated than in other chronic conditions. NPJ Parkinsons Dis 2023;1:113.
  11. Föh B, Schnoor M, Balck A, Waldeck F, Käding N, Borsche M, Rupp J, Katalinic A, Klein C. Transition to endemic: 2-year SARS-CoV-2 surveillance follow-up of the ELISA cohort. ERJ Open Res 2023;4
  12. Borsche M, Dulovic-Mahlow M, Baumann H, Tunc S, Lüth T, Schaake S, Özcakir S, Westenberger A, Münchau A, Knappe E, Trinh J, Brüggemann N, Lohmann K. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. Cerebellum 2023;in press.
  13. Borsche M, Pratuseviciute N, Schaake S, Hinrichs F, Morel G, Uter J, Lohmann K, Klein C, Alessi DR, Hagenah J, Sammler E. The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity. Mov Disord 2023;in press.
  14. Borsche M, Märtens A, Hörmann P, Brückmann T, Lohmann K, Tunc S, Klein C, Hiller K, Balck A. In Vivo Investigation of Glucose Metabolism in Idiopathic and PRKN-Related Parkinson's Disease. Mov Disord 2023;in press.
  15. Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord 2023;2:286-303.
  16. Biasiotto R, Kösters M, Tschigg K, Pramstaller PP, Brüggemann N, Borsche M, Klein C, Hicks AA, Mascalzoni D. Participant perspective on the recall-by-genotype research approach: a mixed-method embedded study with participants of the CHRIS study. Eur J Hum Genet 2023;in press.
  17. Thiessen H, Käding N, Gebel B, Borsche M, Graspeuntner S, Kirchhoff L, Ehlers M, Rahmöller J, Taube S, Kramer J, Klein C, Katalinic A, Rupp J. Risk assessment of SARS-CoV-2 transmission in hospitality employees in a highly frequented tourist area. Heliyon 2022;12:e12177.
  18. Trinh J, Hicks AA, König IR, Delcambre S, Lüth T, Schaake S, Wasner K, Ghelfi J, Borsche M, Vilariño-Güell C, Hentati F, Germer EL, Bauer P, Takanashi M, Kostić V, Lang AE, Brüggemann N, Pramstaller PP, Pichler I, Rajput A, Hattori N, Farrer MJ, Lohmann K, Weissensteiner H, May P, Klein C, Grünewald A. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease. Brain 2022;in press.
  19. Peters E, Alabid A, Elsner S, Klein C, Borsche M, Rupp J, Katalinic A. [Quality assurance follow-up survey of the ELISA cohort study on the prevalence of COVID-19: The view of study participants – What is well received?]. Z Evid Fortbild Qual Gesundhwes 2022:59-69.
  20. Balck A, Föh B, Borsche M, Rahmöller J, Vollstedt EJ, Waldeck F, Käding N, Twesten C, Mischnik A, Gillessen-Kaesbach G, Ehlers M, Sina C, Taube S, Busch H, Rupp J, Katalinic A, Klein C. Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study – a prospective population-based cohort study. BMC Public Health 2022;1:1305.
  21. Borsche M, Tadic V, König IR, Lohmann K, Helmchen C, Brüggemann N. Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS. Brain Behav 2022;6:e32546.
  22. Klein C, Borsche M, Balck A, Föh B, Rahmöller J, Peters E, Knickmann J, Lane M, Vollstedt EJ, Elsner SA, Käding N, Hauswaldt S, Lange T, Hundt JE, Lehrian S, Giese J, Mischnik A, Niemann S, Maurer F, Homolka S, Paulowski L, Kramer J, Twesten C, Sina C, Gillessen-Kaesbach G, Busch H, Ehlers M, Taube S, Rupp J, Katalinic A. One-year surveillance of SARS-CoV-2 transmission of the ELISA cohort: A model for population-based monitoring of infection risk. Sci Adv 2022;15:eabm5016.
  23. Castelo Rueda MP, Raftopoulou A, Gögele M, Borsche M, Emmert D, Fuchsberger C, Hantikainen EM, Vukovic V, Klein C, Pramstaller PP, Pichler I, Hicks AA. Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort. Front Neurol 2021:706145.
  24. Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. A Multi-center Genome-wide Association Study of Cervical Dystonia. Mov Disord 2021;12:2795-2801.
  25. Wang M, Sajobi T, Morgante F, Adler C, Agarwal P, Bäumer T, Berardelli A, Berman BD, Blumin J, Borsche M, Brashear A, Deik A, Duque K, Espay AJ, Ferrazzano G, Feuerstein J, Fox S, Frank S, Hallett M, Jankovic J, LeDoux MS, Leegwater-Kim J, Mahajan A, Malaty IA, Ondo W, Pantelyat A, Pirio-Richardson S, Roze E, Saunders-Pullman R, Suchowersky O, Truong D, Vidailhet M, Shukla AW, Perlmutter JS, Jinnah HA, Martino D. Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion. Eur J Neurol 2021;12:3999-4009.
  26. Borsche M, Reichel D, Fellbrich A, Lixenfeld AS, Rahmöller J, Vollstedt EJ, Föh B, Balck A, Klein C, Ehlers M, Moser A. Persistent cognitive impairment associated with cerebrospinal fluid anti-SARS-CoV-2 antibodies six months after mild COVID-19. Neurol Res Pract 2021;1:34.
  27. Mascalzoni D, Biasiotto R, Borsche M, Brüggemann N, De Grandi A, Goegele M, Frygner-Holm S, Klein C, Kösters M, Staunton C, Pramstaller PP, Krawczak M, Hicks AA. Balancing scientific interests and the rights of participants in designing a recall by genotype study. Eur J Hum Genet 2021;7:1146-1157.
  28. Prasuhn J, Borsche M, Hicks AA, Gögele M, Egger C, Kritzinger C, Pichler I, Castelo-Rueda MP, Langlott L, Kasten M, Mascalzoni D, Klein C, Pramstaller PP, Brüggemann N. Task matters – challenging the motor system allows distinguishing unaffected Parkin mutation carriers from mutation-free controls. Parkinsonism Relat Disord 2021:101-104.
  29. Trilck-Winkler M, Borsche M, König IR, Balck A, Lenz I, Kasten M, Lohmann K, Brockmann K, Valente EM, Klein C, Brüggemann N, Seibler P. Parkin Deficiency Appears Not to Be Associated with Cardiac Damage in Parkinson's Disease. Mov Disord 2021;1:271-273.
  30. Föh B, Borsche M, Balck A, Taube S, Rupp J, Klein C, Katalinic A. Complications of nasal and pharyngeal swabs: a relevant challenge of the COVID-19 pandemic? Eur Respir J 2020;4
  31. Borsche M, Pereira SL, Klein C, Grünewald A. Mitochondria and Parkinson's Disease: Clinical, Molecular, and Translational Aspects. J Parkinsons Dis 2020;1:45-60.
  32. Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, Rosenstiel P, Lohmann K, Brockmann K, Valente EM, Youle RJ, Grünewald A, Klein C. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain 2020;10:3041-3051.
  33. Balck A, Borsche M, Grütz K, Brüggemann N, Westenberger A, Klein C, Alvarez-Fischer D. Don't do harm by diagnosis – An abnormal cranial CT: Still fa(h)r from a disease. Parkinsonism Relat Disord 2020:116-118.
  34. Schiemenz C, Westenberger A, Tanzer K, Grütz K, Borsche M, Mahlke G, Schaake S, Rakovic A, Aherrahrou Z, Erdmann J, Klein C, Alvarez-Fischer D. Osteoclast imbalance in primary familial brain calcification: evidence for its role in brain calcification. Brain 2019;1:e1.
  35. Dulovic-Mahlow M, Lukomska A, Diaw SH, Balck A, Borsche M, Grütz K, Lenz I, Rudolph F, Lohmann K, Klein C, Seibler P. Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease. Stem Cell Res 2019:101629.
  36. Borsche M, Balck A, Kasten M, Lohmann K, Klein C, Brüggemann N. The sooner, the later – Delayed diagnosis in Parkinson's disease due to Parkin mutations. Parkinsonism Relat Disord 2019:284-285.
  37. Balck A, Borsche M, Kasten M, Lohmann K, Seibler P, Brüggemann N, Klein C. Discordance in monozygotic Parkinson's disease twins – continuum or dichotomy? Ann Clin Transl Neurol 2019;6:1102-1105.
  38. Trinh J, Lohmann K, Baumann H, Balck A, Borsche M, Brüggemann N, Dure L, Dean M, Volkmann J, Tunc S, Prasuhn J, Pawlack H, Imhoff S, Lill CM, Kasten M, Bauer P, Rolfs A, International Parkinson's Disease Genomics Consortium (IPDGC)., Klein C. Utility and implications of exome sequencing in early-onset Parkinson's disease. Mov Disord 2018;1:133-137.
  39. Borsche M, Hahn S, Hanssen H, Münchau A, Wandinger KP, Brüggemann N. Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism. J Neurol 2018;2:522-524.
  40. Sliter DA, Martinez J, Hao L, Chen X, Sun N, Fischer TD, Burman JL, Li Y, Zhang Z, Narendra DP, Cai H, Borsche M, Klein C, Youle RJ. Parkin and PINK1 mitigate STING-induced inflammation. Nature 2018;7722:258-262.