SP-CERN Related Publications

Menden B, Incebacak Eltemur RD, Demidov G, Sturm M, Park J, Huridou C, Fath F, Nümann A, Baumann A, Diets IJ, Dufke C, Regensburger M, Rönnefarth M, Wilke V, van Os N, Vielhaber S, Rattay TW, Kohl Z, Peralta S, Pereira Sena P, Kellner M, Weissert N, Traschütz A, Zeltner L, Boelmans K, Deininger N, Schütz L, Gross C, Hinojosa Amaya AB, Raupach K, Hengel H, Harmuth F, Admard J, Bader I, Baumann S, Bender F, Bevot A, Bischoff A, Boschann F, Buchert R, Buchzik D, Casadei N, Catarino CB, Cordts I, Cremer K, Doebler-Neumann M, Ehmke N, Elbracht M, Falb RJ, Feindt T, Fleszar Z, Gerstner L, Gläser D, Grasshoff U, Grosch S, Grundmann K, Gutschalk A, Haaga M, Hayer S, Hehr U, Hellenbroich Y, Henn W, Herr B, Herzog R, Horber V, Deppe J, Kaiser N, Kehrer C, Kehrer M, Kern J, Keßler C, Khuller K, Klinkhammer H, Kotzaeridou U, Krawitz P, Kreiss M, Küpper H, Kuster A, Laugwitz L, Lesemann A, Lichey N, Linden T, Macek B, Magg J, Mangold E, Manka E, Marquardt I, Mehnert K, Mengel D, Morlot S, Oehl-Jaschkowitz B, Pauly MG, Philipp M, Radelfahr F, Rautenberg M, Riess A, Saft C, Schlotter-Weigel B, Schmidt A, Schwaibold EMC, Spahlinger V, Spranger S, Steiner KM, Stendel C, Thieme A, Tzschach A, Velic A, Wiethoff S, Wilke C, Züchner S, Zittel S; Solve-RD consortium; Husain RA, Deschauer M, Distelmaier F, Dufke A, Graessner H, Hemmer B, Jacobi H, Klockgether T, Klopstock T, Kobeleva X, Korenke GC, Kuechler A, Kuhlenbäumer G, Kurth I, Nguyen HP, Wunderlich G, Zeuner KE, Klebe S, Auer-Grumbach M, Butryn M, Winkler J, Timmann D, Synofzik M, van de Warrenburg B, Schüle R, Schöls L, Ossowski S, Riess O, Weber JJ, Haack TB. Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. Nat Commun. 2026 Feb 14;17(1):1698. doi: 10.1038/s41467-026-69337-9. PMID: 41690933; PMCID: PMC12910011.

Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Jordanova A, Lee YC, Stevanin G, Zuchner S, Rouleau GA, Gan-Or Z. Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. Mov Disord. 2025 Nov 28. doi: 10.1002/mds.70144. Epub ahead of print. PMID: 41312619.

Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D. Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. Ann Clin Transl Neurol. 2025 Nov 6. doi: 10.1002/acn3.70244. Epub ahead of print. PMID: 41199121.

Rebelo AP, Alawwadh A, Hakami A, Viric V, Alshahrani S, Brankovic M, Stevic Z, Zuchner S, Al-Shehri A, Peric S. FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes Mellitus. Mov Disord Clin Pract. 2025 Aug;12(8):1193-1195. doi: 10.1002/mdc3.70033. Epub 2025 Mar 10. PMID: 40062579; PMCID: PMC12371442.

Cashman CR, Blackstone C, Sadjadi R. Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration. Transl Neurol. Transl Neurol. 2025 Jul;12(7):1454-1464. doi: 10.1002/acn3.70083. Epub 2025 May 21. PMID: 40400204; PMCID: PMC12257116.

Schierbaum L, Quiroz V, Yang K, Rong J, Battaglia N, Zubair U, Christie M, Davis M, Calame D, Danzi MC, Finkel RS, Burns J, Gilbert DL, Mingbunjerdsuk D, Pruitt G, Pruitt N, Cobb J, Sadjadi R, Cashman CR, Blackstone C, Fink JK, Shy ME, Zuchner S, Ebrahimi-Fakhari D. The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia. Neurol Genet. 2025 Feb 21;11(2):e200249. doi: 10.1212/NXG.0000000000200249. PMID: 39996129; PMCID: PMC11849523.

The primary objective of this paper was to present the establishment of the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) aimed at promoting clinical trial readiness for hereditary spastic paraplegia (HSP). SP-CERN is unique in its approach to addressing the diagnostic and therapeutic challenges associated with HSP through a large-scale, collaborative effort.

Lobato AG, Ortiz-Vega N, Canic T, Tao X, Bucan N, Ruan K, Rebelo AP, Schule R, Zuchner S, Syed S, Zhai RG. Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia. Biochim Biophys Acta Mol Basis Dis. 2024 Oct;1870(7):167348. doi: 10.1016/j.bbadis.2024.167348. Epub 2024 Jul 8. PMID: 38986817; PMCID: PMC11549967.

Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. The GENESIS database and tools: A decade of discovery in Mendelian genomics. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. PMID: 39357594.

Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919. PMID: 38990652; PMCID: PMC11364375.