Disease registries and rare disorders: The virtuous example of mitochondrial medicine.
Orsucci D, Caldarazzo Ienco E, Lopriore P, Mancuso M. Disease registries and rare disorders: The virtuous example of mitochondrial medicine.
Exp Neurol. 2025 Feb;384:115073. doi:10.1016/j.expneurol.2024.115073. Epub 2024 Nov 25.
PMID: 39603485
Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
De Francesch V, Cazurro-Gutiérrez A, Timmers ER, et al. Natural history of SGCE-associated myoclonus dystonia in children and adolescents. Dev Med Child Neurol. 2025;67(6):740-749. doi:10.1111/dmcn.16214
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International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
Nou-Fontanet L, Ravelli C, Burglen L, Balsells Mejia S, Valls-Villalba A, Schiffels ER, Innocenti A, Villafuerte B, Salazar-Villacorta A, Quiroz V, Sariego Jamardo A, Bonato G, Díaz-Gomez A, Afenjar A, Vilain C, da Silva Möller PD, Garcia-Navas Nuñez D, Krygier M, Molnar MJ, Milanowski Ł, Õunap K, Pauni M, Vega P, Borie R, Villamil-Osorio M, Yilmaz S, Zádori D, Zawadzka M, Barakat TS, Neuens S, de Natera-de Benito D, Casas-Alba D, Soliani L, de Gusmao CM, Garone G, Specchio N, Carecchio M, Moreno JC, Magrinelli F, Bhatia KP, Ebrahimi-Fakhari D, Castiglioni C, Kurian MA, Carvalho JN, Pons R, Roze E, Doummar D, Ortigoza-Escobar JD. International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
Mov Disord. 2026 Jan 19. doi: 10.1002/mds.70187. Online ahead of print.
PMID: 41552915
Efficacy of deep brain stimulation in treating monogenic dystonia symptoms: protocol for a systematic review.
Carmona-Hidalgo B, Quintero J, Rodríguez-López R, Blasco-Amaro JA, Boesch S, Reinhard C. fficacy of deep brain stimulation in treating monogenic dystonia symptoms: protocol for a systematic review.
BMJ Open. 2025 Apr 9;15(4):e083127. doi: 10.1136/bmjopen-2023-083127.
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Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.
Indelicato E, Carmona-Hidalgo B, Quintero J, Escobar JDO, Koy A, Salamon A, Tacik P, Muñoz-Delgado L, Giannini G, Reich M, Albanese A, Bäumer T, Grandas F, Jech R, Leonardos A, Mir P, Pérez-Dueñas B, Perez-Sanchez JR, Valldeoriola F, Zanni G, Vidailhet M, Rodríguez-López R, Blasco-Amaro JA, Reinhard C, Boesch S; European Reference Network for Rare Neurological Diseases (ERN‐RND). Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.
Eur J Neurol. 2026 Jan;33(1):e70490. doi: 10.1111/ene.70490.
PMID: 41543040 PMC12809714
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
Le A, Thibault KA, Yazdani PA, Chapleau A, van Voorst RJ, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Renaud D, Gonzalez Moron D, Kauffman M, De Assis Pereira D, Vanderver A, van der Knaap MS, Morsa M, Bernard G. The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
Pediatr Neurol. 2026 Mar;176:31-40. doi: 10.1016/j.pediatrneurol.2025.12.004. Epub 2025 Dec 16.
PMID: 41518854
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich’s ataxia: baseline results of the PROFA study.
Grobe-Einsler M, Borel S, Buchholz M, Sayah S, Hilab R, Pierron L, Iskandar A, Humphries B, Ewenczyk C, Heinzmann A, Atencio M, Feldmann K, Maas V, Faber J, Boesch S, Indelicato E, Reetz K, Schulz JB, Bischoff AT, Klopstock T, Schöls L, Minnerop M, Timmann D, Davies EH, Klockgether T, Durr A, Xie F, Michalowsky B. Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich’s ataxia: baseline results of the PROFA study.
Lancet Reg Health Eur. 2025 Dec 11;61:101552. doi: 10.1016/j.lanepe.2025.101552. eCollection 2026 Feb.
PMID: 41488489 PMC12756708
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
Baumeister H, Wegner P, Ferreira M, Schaprian T, França MC Jr, Rezende TJR, Muro Martinez AR, Jiang H, Chen Z, Weihua L, Grobe-Einsler M, Koyak B, Önder D, van de Warrenburg B, van Gaalen J, Durr A, Coarelli G, Synofzik M, Schöls L, Giunti P, Garcia-Moreno H, Öz G, Joers J, Timmann D, Thieme AG, Jacobi H, de Vries J, Barker P, Onyike C, Ratai EM, Schmahmann JD, Reetz K, Infante J, Huebener-Schmid J, Kuegler D, Klockgether T, Berron D, Faber J; DELCODE/DANCER; ESMI MRI Study Groups. Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicine. 2026 Jan;123:106090. doi: 10.1016/j.ebiom.2025.106090. Epub 2025 Dec 23.
PMID: 41443080 PMC12800623
Building on European Reference Network for Rare Neurological Diseases (ERN-RND) Experience: Integrating Motor and Non-Motor Assessment in Pediatric Movement Disorders.
Amato ME, Ortigoza-Escobar JD. Building on European Reference Network for Rare Neurological Diseases (ERN-RND) Experience: Integrating Motor and Non-Motor Assessment in Pediatric Movement Disorders.
Mov Disord. 2026 Jan;41(1):284-285. doi: 10.1002/mds.70166. Epub 2025 Dec 22.
PMID: 41424397 PMC12882052
Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study.
Willemse IHJ, Mellone S, Tacconi C, Santorelli FM, Ricca I, Satolli S, Klebe S, Jeschonneck N, Ilg W, Schüle R, Synofzik M, Nonnekes J, van de Warrenburg BPC. Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study.
J Neurol. 2025 Dec 4;273(1):3. doi: 10.1007/s00415-025-13514-1.
PMID: 41342937
Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia.
Tsvetanov KA, Malpetti M, Jones PS, Rittman T, Whiteside DJ, Murley AG, Bethlehem R, Paquola C, Premi E, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Bertoux M, Lebouvier T, Ducharme S, Butler CR, Le Ber I, Finger E, Tartaglia MC, Masellis M, Synofzik M, Moreno F, Borroni B, Rohrer JD, Rowe JB; Genetic FTD Initiative, GENFI. Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia.
Brain. 2025 Nov 24:awaf443. doi: 10.1093/brain/awaf443. Online ahead of print.
PMID: 41277710
Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study.
Soskic S, Tregidgo HFJ, Todd EG, Bouzigues A, Cash DM, Russell LL, Thomas DL, Malone IB, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Nacmias B, Otto M, Bertoux M, Lebouvier T, Ducharme S, Butler CR, Le Ber I, Finger EC, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Alexander DC, Iglesias JE, Rohrer JD, Bocchetta M; GENetic Frontotemporal dementia Initiative (GENFI). Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study.
Brain Commun. 2025 Oct 24;7(6):fcaf420. doi: 10.1093/braincomms/fcaf420. eCollection 2025.
PMID: 41245435 PMC12612583
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
van Voorst RJ, Schoenmakers DH, Bonkowsky JL, Vanderver A, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Sgobbi PV, Wolf NI, Groeschel S, Tonduti D, Sevin C, Orthmann-Murphy JL, Schöls L, Salsano E, Brais B, Jaffe N, Ter Horst KW, Hannema SE, Hayes KG, Meyburg J, van Heerde M, Sbrocchi AM, van Spaendonk R, Thiffault I, Hofsteenge GH, Sudmeier-Broek C, Timmer C, Skwirut D, Buck A, Hollberg B, Chapleau R, Dekker H, Campbell SG, Abbink TEM, Leferink PS, van der Knaap MS. Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Neurology. 2025 Dec 9;105(11):e214320. doi: 10.1212/WNL.0000000000214320. Epub 2025 Nov 13.
PMID: 41232062 PMC12615013
Multiple System Atrophy Without Dysautonomia: An Autopsy-Confirmed Study.
Wilkens I, Bebermeier S, Heine J, Ruf VC, Compta Y, Molina Porcel L, Troakes C, Vamanu A, Downes S, Irwin DJ, Cohen J, Lee EB, Nilsson CF, Englund EM, Nemati M, Katzdobler S, Levin J, Bernhardt AM, Pantelyat A, Seemiller J, Berger S, Van Swieten JC, Dopper EGP, Rozemuller AJM, Kovacs GG, Bendahan N, Lang AE, Herms J, Höglinger GU, Hopfner F. Multiple System Atrophy Without Dysautonomia: An Autopsy-Confirmed Study.
Neurology. 2025 Dec 9;105(11):e214316. doi: 10.1212/WNL.0000000000214316. Epub 2025 Nov 13.
PMID: 41232058 PMC12615010
Cross-country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia.
de Boer L, Jiskoot LC, Seelaar H, van Swieten JC, Ibanez A, Maito M, Fittipaldi S, De Houwer JFH, Swartenbroekx T, Boesjes PA, Convery RS, Ferry-Bolder E, Foster P, Bouzigues A, Chisman-Russell L, van den Berg E, Papma J, Franzen S, Bourdage R, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, Laforce R, Graff C, Gerhard A, Sanchez-Valle R, Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Lebouvier T, Nacmias B, Otto M, Butler CR, Santana I, Bertoux M, Tartaglia MC, Rohrer JD, Poos JM; GENFI Consortium. Cross-country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia.
Alzheimers Dement. 2025 Oct;21(10):e70741. doi: 10.1002/alz.70741.
PMID: 41085124 PMC12519523
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich’s Ataxia in the EFACTS Study.
Lischewski SA, Dogan I, Giunti P, Parkinson MH, Mariotti C, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Jacobi H, Hilgers RD, Schulz JB, Reetz K; EFACTS Study Group. Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich’s Ataxia in the EFACTS Study.
Mov Disord. 2026 Jan;41(1):200-211. doi: 10.1002/mds.70084. Epub 2025 Oct 10 PMID: 41070559 PMC12882042
Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia.
Kancheva IK, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Sánchez-Valle R, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Synofzik M, Moreno F, Borroni B, Rohrer JD, van der Weerd L, Rowe JB, Tsvetanov K; GENFI Consortium. Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia.
Neurology. 2025 Sep 23;105(6):e213677. doi: 10.1212/WNL.0000000000213677. Epub 2025 Sep 4.
PMID: 40906975 PMC12413739
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
Indelicato E, Fleszar Z, Pellerin D, Nachbauer W, Zuchner S, Traschütz A, Amprosi M, Schöls L, Haack TB, Brais B, Boesch S, Synofzik M. GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
Mov Disord. 2025 Oct;40(10):2262-2268. doi: 10.1002/mds.30328. Epub 2025 Aug 19.
PMID: 40879304 PMC12553994
The impact of vanishing white matter on unaffected family members.
van Voorst RJ, Schoenmakers DH, van Beelen I, Gavazzi F, Chapleau A, Vanderver A, Bernard G, Krägeloh-Mann I, van der Knaap MS. The impact of vanishing white matter on unaffected family members.
Orphanet J Rare Dis. 2025 Aug 26;20(1):456. doi: 10.1186/s13023-025-03987-8.
PMID: 40859278 PMC12379427
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Di Folco C, Dubec-Fleury C, Traschütz A, Kessler C, Reich S, Gagnon C, Lessard I, Rodrigue X, Cocozza S, Satolli S, Santorelli FM, Durr A, Heinzmann A, van de Warrenburg BP, Willemse IHJ, Başak AN, Vural A, Brais B, Klebe S, Horvath R; PROSPAX Consortium; Schüle R, Synofzik M, Tezenas du Montcel S. Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Mov Disord. 2025 Nov;40(11):2476-2485. doi: 10.1002/mds.70006. Epub 2025 Aug 20.
PMID: 40832806 PMC12661626
RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.
Karaa A, Goldstein A, Cohen BH, Haas RH, Vockley J, Gorman GS, Mancuso M; RePOWER, MMPOWER‐3, and MOTOR investigators. RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.
Clin Genet. 2026 Jan;109(1):86-98. doi: 10.1111/cge.70026. Epub 2025 Aug 11.
PMID: 40785393
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
Beerepoot S, Schoenmakers DH, Fumagalli F, Groeschel S, Schöls L, Schiffmann R, Wong S, Boespflug-Tanguy O, Sevin C, Nadjar Y, Bley A, Mochel F, Horn MA, Baldoli C, Locatelli S, Hengel H, Laugwitz L, Hollak CEM, Gieselmann V, van der Knaap MS, Wolf NI. ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.
J Inherit Metab Dis. 2025 Sep;48(5):e70072. doi: 10.1002/jimd.70072
PMID: 40751594 PMC12317651
Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.
Russell LL, Bouzigues A, Convery RS, Foster PH, Ferry-Bolder E, Cash DM, Van Swieten JC, Jiskoot LC, Seelaar H, Moreno F, Sánchez-Valle R, Laforce R Jr, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler C, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Sorbi S, Otto M, Rohrer JD; Genetic FTD Initiative (GENFI). Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.
Neurol Genet. 2025 Jul 21;11(4):e200248. doi: 10.1212/NXG.0000000000200248. eCollection 2025 Aug
PMID: 40703202 PMC12285671
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA, Perrier S, Gauthier S, Derksen A, Sabbagh Q, Girbig M, Misiaszek AD, Pizzino AM, Renaud DL, De Assis Pereira D, Okuda P, Karoleska LM, Keller S, Chong K, Gauquelin L, Brais B, Leube B, Grider T, Shy ME, Schüle R, Minnerop M, Bertini E, Nicita F, Tonduti D, Müller CW, Vanderver A, Wolf NI, Bernard G. Comprehensive genotype-phenotype analysis in POLR3-related disorders.
HGG Adv. 2025 Oct 9;6(4):100481. doi: 10.1016/j.xhgg.2025.100481. Epub 2025 Jul 18.
PMID: 40684265 PMC12391809
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
Berger M, Garcia-Moreno H, Ferreira M, Hubener-Schmid J, Schaprian T, Wegner P, Elter T, Teichmann KM, Santana MM, Grobe-Einsler M, Oender D, Koyak BSC, Bernsen S, Pereira de Almeida L, Silva P, Ribeiro JA, Cunha I, Gonzalez-Robles C, Khan S, Heslegrave A, Zetterberg H, Lima M, Raposo M, Ferreira AF, Vasconcelos J, van de Warrenburg BP, van Gaalen J, van Prooije TH, de Vries J, Schols L, Riess O, Synofzik M, Timmann D, Thieme A, Erdlenbruch F, Infante J, Pelayo-Negro AL, Manrique L, Reetz K, Dogan I, Oz G, Joers JM, Bushara K, Onyike C, Povazan M, Jacobi H, Schmahmann JD, Ratai EM, Schmid M, Giunti P, Klockgether T, Faber J. Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
Lancet Reg Health Eur. 2025 Jul 3;55:101339. doi: 10.1016/j.lanepe.2025.101339. eCollection 2025 Aug.
PMID: 40678042 PMC12270660
Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.
Bouzigues A, Du VL, Joulot M, Peysson N, Houot M, Béranger B, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot L, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Bertoux M, Lebouvier T, Ducharme S, Butler CR, Ber IL, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rohrer JD, Migliaccio R; GENetic Frontotemporal dementia Initiative (GENFI). Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.
Alzheimers Dement. 2025 Jul;21(7):e70367. doi: 10.1002/alz.70367.
PMID: 40673371 PMC12268314
Prodromal, established, and advanced Parkinson’s disease and atypical parkinsonisms: Prevalence and healthcare service utilization in the Catalan Health Surveillance System (Catpark study).
Melendo-Azuela EM, Compta Y, Vela E, Mariscal S, Cámara A, Solano B, Escalante S, Jaumà S, Santaeugènia S. Prodromal, established, and advanced Parkinson’s disease and atypical parkinsonisms: Prevalence and healthcare service utilization in the Catalan Health Surveillance System (Catpark study).
Parkinsonism Relat Disord. 2025 Sep;138:107937. doi: 10.1016/j.parkreldis.2025.107937. Epub 2025 Jun 25
PMID: 40645019
False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia.
Heleven E, Vyhnalek M, Karamazovová S, Van Overwalle F, Naeije G. False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia.
Cerebellum. 2025 Jul 11;24(5):128. doi: 10.1007/s12311-025-01886-z.
PMID: 40643773
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI. Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Neurology. 2025 Jul 22;105(2):e213817. doi: 10.1212/WNL.0000000000213817. Epub 2025 Jun 27.
PMID: 40577679 PMC12205745
Caregivers’ Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.
Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L, Ortigoza-Escobar JD. Caregivers’ Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.
Neuromodulation. 2025 Jun 22:S1094-7159(25)00192-8. doi: 10.1016/j.neurom.2025.05.005. Online ahead of print.
PMID: 40544367
How Do I Diagnose Multiple System Atrophy-A Videolibrary on Clinical and Imaging Features.
Sidoroff V, Baldelli L, Bendahan N, Calandra-Buonaura G, Campese N, Da Prat G, Fabbri M, Fanciulli A, Ferreira JJ, Gandor F, Gatto E, Gilmour GS, Katzdobler S, Kaufmann H, Kostic V, Krismer F, Khurana V, Lang A, Levin J, Millar Vernetti P, Pellecchia MT, Petrovic I, Poewe W, Raccagni C, Simões RM, Singer W, Strupp M, van Eimeren T, Stamelou M, Höglinger G, Wenning G, Stankovic I; MDS MSA Study group. How Do I Diagnose Multiple System Atrophy-A Videolibrary on Clinical and Imaging Features.
Mov Disord Clin Pract. 2025 Oct;12(10):1690-1693. doi: 10.1002/mdc3.70181. Epub 2025 Jun 18.
PMID: 40530646 PMC12999040
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, García-Cazorla Á, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H, Wolf NI. Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Eur J Paediatr Neurol. 2025 Jul;57:72-81. doi: 10.1016/j.ejpn.2025.05.012. Epub 2025 May 29.
PMID: 40482356
The organizational dimension in rare and complex diseases care management: an application of RarERN Path(©) methodology in ataxias, dystonia and phenylketonuria.
Cannizzo S, Quoidbach V, Trieste L, Benson M, Federico A, Filla A, Gilroy BS, Giunti P, Graeßner H, Greenfield J, Hagedorn T, Hermida A, Hunt B, MacDonald A, Morgante F, Oertel W, Pastores G, Pauly MG, Reinhard C, Relja M, Treacy E, Van Spronsen F, Vallortigara J, Turchetti G. The organizational dimension in rare and complex diseases care management: an application of RarERN Path(©) methodology in ataxias, dystonia and phenylketonuria.
BMC Health Serv Res. 2025 Jun 4;25(1):799. doi: 10.1186/s12913-025-12784-9.
PMID: 40468287 PMC12135423
A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.
García-González P, Rodrigo Lara H, Compta Y, Fernandez M, van der Lee SJ, de Rojas I, Saiz L, Painous C, Camara A, Muñoz E, Marti MJ, Valldeoriola F, Puerta R, Illán-Gala I, Pagonabarraga J, Dols-Icardo O, Kulisevsky J, Fortea J, Lleó A, Olivé C, de Boer SCM, Hulsman M, Pijnenburg YAL, Díaz Belloso R, Muñoz-Delgado L, Buiza Rueda D, Gómez-Garre P, Aldecoa I, Aragonés G, Hernandez Vara J, Mendioroz M, Pérez-Tur J, Visser PJ, den Braber A, Papma JM, Martín Montes Á, Rodriguez-Rodriguez E, Blázquez-Folch J, Miguel A, García-Gutiérrez F, Cano A, Valero S, Marquié M, Capdevila-Bayo M, Rosende-Roca M, Quintela I, Carracedo Á, Tàrraga L, Real LM, Royo JL, Erro ME, Guerrero C, Corte Torres D, Blázquez-Estrada M, San Millán B, Teijeira S, Vilas Rolan D, Hernández I, Sánchez-Soblechero A, de la Casa-Fages B, Serrano López S, Baviera-Muñoz R, Lavín A, Taipa R, Amer G, Martinez-Saez E, Fernández-Matarrubia M, Lage-Martínez C, Álvarez V, Molina-Porcel L, Holstege H, Mir P, Belbin O, Boada M, Fernández V, Bullido MJ, Rábano A, Sánchez-Juan P, Ruiz A. A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.
Eur J Hum Genet. 2025 Jul;33(7):960-965. doi: 10.1038/s41431-025-01872-3. Epub 2025 May 16.
PMID: 40379966 PMC12229675
Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Domínguez-Carral J, Reinhard C, Soliani L, Cif L, Ortigoza-Escobar JD. Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Mov Disord Clin Pract. 2025 Oct;12(10):1615-1621. doi: 10.1002/mdc3.70102. Epub 2025 Apr 25.
PMID: 40281660 PMC12528955
Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia.
Liu X, de Boer SCM, Cortez K, Poos JM, Illán-Gala I, Heuer H, Forsberg LK, Casaletto K, Memel M, Appleby BS, Barmada S, Bozoki A, Clark D, Cobigo Y, Darby R, Dickerson BC, Domoto-Reilly K, Galasko DR, Geschwind DH, Ghoshal N, Graff-Radford NR, Grant IM, Hsiung GR, Honig LS, Huey ED, Irwin D, Kantarci K, Léger GC, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman P, Bayram E, Ramos EM, Roberson ED, Rogalski E, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Masellis M, van Swieten J, Jiskoot L, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler CR, Ber IL, Finger E, Rowe JB, Synofzik M, Moreno F, Borroni B, Boeve BF, Boxer AL, Rosen HJ, Pijnenburg YAL, Rohrer JD, Tartaglia MC; ALLFTD Consortium and the GENFI Consortium. Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia.
Alzheimers Dement. 2025 Apr;21(4):e14608. doi: 10.1002/alz.14608.
PMID: 40277074 PMC12022892
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D, Mengel D, Önder D, Wilke C, Traschütz A, Faber J, Timmann D, Boesch S, Vielhaber S, Klopstock T, van de Warrenburg BP, Silvestri G, Kamm C, Wedding IM, Fleszar Z, Harmuth F, Dufke C, Brais B, Rieß O, Schöls L, Haack T, Züchner S, Pellerin D; SPORTAX consortium; Klockgether T, Synofzik M. The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
EBioMedicine. 2025 May;115:105715. doi: 10.1016/j.ebiom.2025.105715. Epub 2025 Apr 23.
PMID: 40273470 PMC12051541
Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study.
Mirza SS, Pasternak M, Paterson AD, Rogaeva E, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Bocchetta M, Cash DM, Zetterberg H, Sogorb-Esteve A, van Swieten J, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Rowe JB, Synofzik M, Moreno F, Borroni B, Rohrer JD, Masellis M; GENetic Frontotemporal dementia Initiative (GENFI). Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study.
Brain. 2025 Aug 1;148(8):2746-2762. doi: 10.1093/brain/awaf019.
PMID: 40260680 PMC12316011
Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias.
Willemse IHJ, Mellone S, Tacconi C, Ilg W, Schüle R, Synofzik M, Nonnekes JH, van de Warrenburg BPC. Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias.
Cerebellum. 2025 Mar 24;24(3):71. doi: 10.1007/s12311-025-01820-3.
PMID: 40126682 PMC11933166
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C. Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Neurology. 2025 Apr;104(7):e213462. doi: 10.1212/WNL.0000000000213462. Epub 2025 Mar 20.
PMID: 40112238 PMC11929137
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Vanegas MI, Marcé-Grau A, Cazurro-Gutiérrez A, Hamami F, Timmers ER, Weißbach A, Tijssen MAJ, González V, Miguel LD, Martin M, Benson M, Reinhard C, Pérez-Dueñas B. Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Mov Disord Clin Pract. 2025 Jul;12(7):957-968. doi: 10.1002/mdc3.70028. Epub 2025 Mar 15.
PMID: 40088059 PMC12274992
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA, Vanderver AL. The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Mol Genet Metab. 2025 Mar;144(3):109048. doi: 10.1016/j.ymgme.2025.109048. Epub 2025 Feb 1.
PMID: 39951964 PMC11875891 NIHMS2058765
Montreal Cognitive Assessment vs the Mini-Mental State Examination as a Screening Tool for Patients With Genetic Frontotemporal Dementia.
de Boer L, Poos JM, Van Den Berg E, De Houwer JFH, Swartenbroekx T, Dopper EGP, Boesjes P, Tahboun N, Bouzigues A, Foster PH, Ferry-Bolder E, Adams-Carr K, Russell LL, Convery RS, Rohrer JD, Seelaar H, Jiskoot LC. Montreal Cognitive Assessment vs the Mini-Mental State Examination as a Screening Tool for Patients With Genetic Frontotemporal Dementia.
Neurology. 2025 Mar 11;104(5):e213401. doi: 10.1212/WNL.0000000000213401. Epub 2025 Feb 14.
PMID: 39951678 PMC11837847
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Brain. 2025 Aug 1;148(8):2827-2846. doi: 10.1093/brain/awaf059.
PMID: 39937650 PMC12316014
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Quazza F, Riant F, Patera M, Suppa A, Satolli S, Burglen L, Zech M, Boesch S, Indelicato E, Hainque E, Apartis E, Rodriguez D, Doummar D, Méneret A, Ravelli C. Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Parkinsonism Relat Disord. 2025 Mar;132:107274. doi: 10.1016/j.parkreldis.2025.107274. Epub 2025 Jan 21.
PMID: 39908726
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes.
Sogorb-Esteve A, Weiner S, Simrén J, Swift IJ, Bocchetta M, Todd EG, Cash DM, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler CR, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Genfi, Blennow K, Zetterberg H, Rohrer JD, Gobom J; GENFI. Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes.
Sci Transl Med. 2025 Feb 5;17(784):eadm9654. doi: 10.1126/scitranslmed.adm9654. Epub 2025 Feb 5.
PMID: 39908349
Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.
Jang DG, Federico A, Savelieff MG, Grisold W, Mancuso M, Molnar MJ, Feldman EL, Reynolds EL; World Federation of Neurology Subspecialist Group on Rare Neurologic Diseases. Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey.
J Neurol Sci. 2025 Mar 15;470:123395. doi: 10.1016/j.jns.2025.123395. Epub 2025 Jan 14.
PMID: 39855013 PMC11846688 NIHMS2051479
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17.
PMID: 39825153 PMC11835725
The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.
Livanos I, Votsi C, Michailidou K, Pellerin D, Brais B, Zuchner S, Pantzaris M, Kleopa KA, Zamba Papanicolaou E, Christodoulou K. The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population.
Brain Commun. 2025 Jan 3;7(1):fcae479. doi: 10.1093/braincomms/fcae479. eCollection 2025.
PMID: 39801711 PMC11724429
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB, Reetz K; EFACTS study group. Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Eur J Neurol. 2025 Jan;32(1):e70011. doi: 10.1111/ene.70011.
PMID: 39797559 PMC11724196
Dystonia caused by ANO3 variants is due to attenuated Ca(2+) influx by ORAI1.
Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Ortigoza-Escobar JD, Schreiber R, Kunzelmann K. Dystonia caused by ANO3 variants is due to attenuated Ca(2+) influx by ORAI1.
BMC Med. 2025 Jan 7;23(1):12. doi: 10.1186/s12916-024-03839-5.
PMID: 39773217 PMC11707858
Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension.
Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T, Michalowsky B; EFACTS Study Group. Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension.
Neurol Ther. 2025 Feb;14(1):379-398. doi: 10.1007/s40120-024-00694-7. Epub 2024 Dec 30.
PMID: 39738982 PMC11762039
Gyroscopic wearable improves balance performance in people with degenerative ataxia – a sham-controlled robotics study.
Sterke BT, van de Venis L, Poggensee KL, van de Warrenburg B, Weerdesteyn V, Ribbers GM, Vallery H, Nonnekes J. Gyroscopic wearable improves balance performance in people with degenerative ataxia – a sham-controlled robotics study.
npj Robot. 2025 Aug 27;3(1):26. doi: 10.1038/s44182-025-00041-4
Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data.
Vallortigara J, Greenfield J, Hunt B, Graessner H, Reinhard C, Nadke A, Schuman BJ, Hoffman D, Morris S, Giunti P. Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data.
Heliyon. 2025 Jan 29;11(3):e42121. doi: 10.1016/j.heliyon.2025.e42121. eCollection 2025 Feb 15.
PMID: 39995921 PMC11849067