RESEARCH PUBLICATIONS
2024
Willemse IHJ, Mellone S, Tacconi C, Ilg W, Schüle R, Synofzik M, Nonnekes JH, van de Warrenburg BPC. Cerebellum. 2025 Mar 24;24(3):71. doi: 10.1007/s12311-025-01820-3. PMID: 40126682
Beichert L, Winfried Ilg, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C, PROSPAX Consortium, Schüle R, Synofzik M. Mov Disord. 2024 Jun 7. doi: 10.1002/mds.29876. PMID: 38847438.
Beichert L, Ilg W, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C; PROSPAX Consortium; Schüle R, Synofzik M. Mov Disord. 2024 Jun 7. doi: 10.1002/mds.29876. Online ahead of print. PMID: 38847438
Tunca C, İşlek Camadan EE, Smolina N, Palvadeau RJ, Öztop Çakmak Ö, Vural A, Traschütz A, Santorelli FM, Brais B, Schüle R, Synofzik M, Başak AN. Movement Disorders. 2024 Sep 24. doi: 10.1002/mds.30012. Online ahead of print. PMID: 39314081
Beichert L, Seemann J, Kessler C, Traschütz A, Müller D, Dillmann-Jehn K, Ricca I, Satolli S, Basak NA, Coarelli G, Timmann D, Gagnon C, van de Warrenburg BPC; PROSPAX Consortium; Ilg W, Synofzik M, Schüle R. Neurology. 2024 Dec 24;103(12):e209887. doi: 10.1212/WNL.0000000000209887. Epub 2024 Dec 2. PMID: 39621946
Scaravilli A, Gabusi I, Mari G, Battocchio M, Bosticardo S, Schiavi S, Bender B, Kessler C, Brais B, La Piana R, van de Warrenburg BP, Cosottini M, Timmann D; PROSPAX Consortium; Daducci A, Schüle R, Synofzik M, Santorelli FM, Cocozza S. J Neurol. 2024 Aug;271(8):5468-5477. doi: 10.1007/s00415-024-12505-y. Epub 2024 Jun 16. PMID: 38880819
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ticca I, Bender B, Traschütz A, Başak AN, Vural A, va da Warrenburg B, Durr A, La Piana R, Timmann D, PROSPAX Consortium, Schüle R, Synofzik M, Santorelli FM, Cocozza S. Mov Disord. Jun 7. doi: 10.1002/mds.29871. PMID: 38847051.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, […], Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. J Neurol. 2024 Aug;271(8):5478-5488. doi: 10.1007/s00415-024-12506-x. Epub 2024 Jun 17. PMID: 38886208
Scaravilli A, Tranfa M, Pontillo G, Brais B, De Michele G, La Piana R, Saccà F, Santorelli FM, Synofzik M, Brunetti A, Cocozza S. Cerebellum. 2024 Mar 4. doi: 10.1007/s12311-024-01677-y. Online ahead of print. PMID: 38436911 Review.
Santorelli FM, McLoughlin HS, Wolter JM, Galatolo D, Synofzik M, Mengel D, Opal P; AGI-WG2-Biomarkers Study Group. Cerebellum. 2024 Jun;23(3):881-886. doi: 10.1007/s12311-023-01561-1. Epub 2023 May 27. PMID: 37243885
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.
Scaravilli A, Tranfa M, Pontillo G, Brais B, De Michele G, La Piana R, Saccà F, Santorelli FM, Synofzik M, Brunetti A, Cocozza S. Cerebellum. 2024 Apr;23(2):757-774. doi: 10.1007/s12311-023-01562-0. Epub 2023 May 8. PMID: 37155088 Review.
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L, Erdlenbruch F, Leitão E, Kilpert F, Hönes GS, Kaya S, Schröder C, Thieme A, Sturm M, Park J, Schlüter A, Ruiz M, Morales de la Prida M, Casasnovas C, Becker K, Roggenbuck U, Pechlivanis S, Kaiser FJ, Synofzik M, Wirth T, Anheim M, Haack TB, Lockhart PJ, Jöckel KH, Pujol A, Klebe S, Timmann D, Depienne C. Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1. PMID: 39227614
Pellerin D, Seemann J, Traschütz A, Brais B, Ilg W, Synofzik M. Mov Disord. 2024 Oct;39(10):1892-1894. doi: 10.1002/mds.29915. Epub 2024 Jul 1. PMID: 38949032
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, […]Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. PMID: 38937606
Mahdieh N, Heidari M, Rezaei Z, Tavasoli AR, Hosseinpour S, Rasulinejad M, Dehnavi AZ, Ghahvechi Akbari M, Badv RS, Vafaei E, Mohebbi A, Mohammadi P, Hosseiny SMM, Azizimalamiri R, Nikkhah A, Pourbakhtyaran E, Rohani M, Khanbanha N, Nikbakht S, Movahedinia M, Karimi P, Ghabeli H, Hosseini SA, Rashidi FS, Garshasbi M, Kashani MR, Ghiasvand NM, Zuchner S, Synofzik M, Ashrafi MR. Hum Genomics. 2024 Apr 3;18(1):35. doi: 10.1186/s40246-024-00598-5. PMID: 38570878
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Traschütz A, Fleszar Z, Hengel H, Klockgether T, Erdlenbruch F, Falkenburger BH, Klopstock T, Öztop-Çakmak Ö, Pedroso JL, Santorelli FM, Schöls L; RFC1 Study Group, PREPARE Consortium; Synofzik M. Mov Disord. 2024 Jun;39(6):965-974. doi: 10.1002/mds.29788. Epub 2024 Mar 20. PMID: 38509638
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. PMID: 38507876
Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2.
Seemann J, Daghsen L, Cazier M, Lamy JC, Welter ML, Giese MA, Synofzik M, Durr A, Ilg W, Coarelli G. Mov Disord. 2024 May;39(5):788-797. doi: 10.1002/mds.29757. Epub 2024 Feb 28. PMID: 38419144
RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.
Pellerin D, Heindl F, Traschütz A, Rujescu D, Hartmann AM, Brais B, Houlden H, Dufke C, Riess O, Haack T, Strupp M, Synofzik M. J Neurol. 2024 May;271(5):2886-2892. doi: 10.1007/s00415-024-12229-z. Epub 2024 Feb 21. PMID: 38381176
Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.
Kneer K, Straub S, Wittlinger J, Stahl JH, Winter N, Timmann D, Schöls L, Synofzik M, Bender F, Grimm A. J Neurol. 2024 May;271(5):2494-2502. doi: 10.1007/s00415-023-12159-2. Epub 2024 Jan 23. PMID: 38261029
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M, Bönnemann CG, Nazlı Başak A, Hornemann T, Zuchner S. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):201-205. doi: 10.1136/jnnp-2023-332130. PMID: 38041684
Pellerin D, Wilke C, Traschütz A, Nagy S, Currò R, Dicaire MJ, Garcia-Moreno H, Anheim M, Wirth T, Faber J, Timmann D, Depienne C, Rujescu D, Gazulla J, Reilly MM, Giunti P, Brais B, Houlden H, Schöls L, Strupp M, Cortese A, Synofzik M. J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):175-179. doi: 10.1136/jnnp-2023-331490. PMID: 37399286
Santorelli FM, McLoughlin HS, Wolter JM, Galatolo D, Synofzik M, Mengel D, Opal P; AGI-WG2-Biomarkers Study Group. Cerebellum. 2024 Jun;23(3):881-886. doi: 10.1007/s12311-023-01561-1. Epub 2023 May 27. PMID: 37243885
Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner S, Synofzik M; AGI Ataxia NGS genomics, platforms Working Group. Cerebellum. 2024 Apr;23(2):391-400. doi: 10.1007/s12311-023-01537-1. Epub 2023 Mar 4. PMID: 36869969
2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ, Bonnet C, Houlden H, Züchner S, Synofzik M, Lamont PJ, Renaud M, Boesch S, Brais B. Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023. PMID: 37705681
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. PMID: 35913761
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, […]Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. PMID: 36516086
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H; RFC1 study group; Züchner S, Schöls L, Brais B, Synofzik M.
Brain. 2023 Oct 3;146(10):4144-4157. doi: 10.1093/brain/awad157.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M.
Mov Disord. 2023 Jun;38(6):1109-1112. doi: 10.1002/mds.29397. Epub 2023 Apr 7.
Ataxia and spastic paraplegia in mitochondrial disease.
Synofzik M, Rugarli M, Reid E, Schüle R.
Handb Clin Neurol. 2023. PMID: 36813322 Review.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Demet Oender , Jennifer Faber , Carlo Wilke, Tamara Schaprian, Asadeh Lakghomi, David Mengel, Ludger Schöls, Andreas Traschütz, Zofia Fleszar, Claudia Dufke, Stefan Vielhaber, Judith Machts, Ilaria Giordano, Marcus Grobe-Einsler, Thomas Klopstock, Claudia Stendel, Sylvia Boesch, Wolfgang Nachbauer, Dagmar Timmann-Braun, Andreas Gustafsson Thieme, Christoph Kamm, Ales Dudesek 15 16, Chantal Tallaksen, Iselin Wedding, Alessandro Filla, Matthias Schmid, Matthis Synofzik, Thomas Klockgether
Mov Disord. 2023. PMID: 36695111
SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
Montoro-Gámez C, Nolte H, Molinié T, Evangelista G, Tröder S, Barth E, Popovic M, Trifunovic A, Zevnik B, Langer T, Rugarli EI. (2023). Brain 146(10):4117-4131. DOI: 10.1093/brain/awad136. PMID: 37086482
2022
Park J, Tucci A, Cipriani V, [...], Horvath R, […] van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. PMID: 35986737
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
Isabell Cordts MD, […] Matthis Synofzik MD, Dagmar Timmann MD, Johannes A. Mayr PhD, Tobias B. Haack MD, Felix Distelmaier MD, Marcus Deschauer MD, Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1. PMID: 36047608
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets, Eur J Neurol. 2022 Jul;29(7):2156-2161. doi: 10.1111/ene.15310. Epub 2022 Mar 23. PMID: 35253317
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M […], Durr A, Klebe S, […], Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J., Mov Disord. 2022 Feb 12. doi: 10.1002/mds.28959. Online ahead of print., PMID: 35150594
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia.
Thierfelder A, Seemann J, John N, Harmuth F, Giese M, Schüle R, Schöls L, Timmann D, Synofzik M, Ilg W., Mov Disord. 2022 Jan 24. doi: 10.1002/mds.28930. Online ahead of print., PMID: 35067979
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
Rebelo AP, Bender B, Haack TB, Zuchner S; PREPARE consortium; Basak AN, Synofzik M.Brain. 2022 Oct 21;145(10):e95-e98. doi: 10.1093/brain/awac240. PMID: 35792670
2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, […], Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J., Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. PMID: 33970200
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. PMID: 33972714
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M […], Durr A, Klebe S, […], Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J.,
Mov Disord. 2022 Feb 12. doi: 10.1002/mds.28959. Online ahead of print., PMID: 35150594
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, […], Horvath R, […], Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium, Synofzik M., Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021.
Natural History of Polymerase Gamma-Related Ataxia.
Bender F, Timmann D, van de Warrenburg BP, Adarmes-Gómez AD, Bender B, Thieme A, Synofzik M, Schöls L. Mov Disord. 2021 Nov;36(11):2642-2652. doi: 10.1002/mds.28713. Epub 2021 Jul 20. PMID: 34288125
