Publications

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volume 26, 2025 – Issue sup1: The European ALS Landscape: Findings from the Precision ALS Network resource.
Guest Editor: Angela Genge

Galvin, M., Heverin, M., Mac Domhnaill, É., Mcfarlane, R., Meldrum, D., Murray, D., Bolger, A., Connelly, J., Flynn, K., Fox, E., Gibbons, F., Hederman, L., Impey, S., O’Keefe, I., O’Meara, C., McKibben, D., Nicholson, M., Stephens, G., Van Dijk, J., Van Den Berg, L., and Hardiman, O. (2025). Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 1–7. https://doi.org/10.1080/21678421.2024.2428927

Caravaca Puchades, A., McDonough, H. E., Al-Chalabi, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., McFarlane, R., Mouzouri, M., Ombelet, F., Opie-Martin, S., Sennfält, S., Terrafeta Pastor, C., Veldink, J.H., Van Damme, P., van den Berg, L., van Eijk, R.P.A., Vasta, R., Weemering, D.N., Shaw, P., McDermott, C.J. and Povedano Panadés, M. (2025). Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 8–19. https://doi.org/10.1080/21678421.2024.2448535

McDonough, H., McFarlane, R., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., Mouzouri, M., Ombelet, F., Opie-Martin, S., Povedano Panadés, M., Sennfält, S., Terrafeta Pastor, C., Veldink, J.H., van Damme, P., van Den Berg, L., van Eijk, R.P.A., Vasta, R, Weemering, D.N., Al-Chalabi, A., Shaw, P., McDermott, C.J. and Hardiman, O. (2025). Examining changing working status and caregiver assistance in amyotrophic lateral sclerosis (ALS) using large-scale European databases as part of PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 20–29. https://doi.org/10.1080/21678421.2024.2448536

van Eijk, R. P. A., Weemering, D. N., Opie-Martin, S., van Unnik, J. W. J., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., McDonough, H., Manera, U., McDermott, C.J., McFarlane, R., Mouzouri, M., Ombelet, F., Povedano Panadés, M., Sennfält, S., Shaw, P.J., Terrafeta Pastor, C., Van Damme, P., Vasta, R., Veldink, J.H., Al-Chalabi, A. and van den Berg, L. H. (2025). Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant Study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 30–40. https://doi.org/10.1080/21678421.2024.2443985

McFarlane, R., Opie-Martin, S., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., McDermott, C.J., McDonough, H., Mouzouri, M., Ombelet, F., Povedano Panadés, M., Sennfält, S., Shaw, P., Terrafeta Pastor, C., Veldink, J.H., Van Damme, P., van den Berg, L., Van Eijk, R.P.A., Vasta, R., Weemering, D.N., Al-Chalabi, A. and Hardiman, O. (2025). Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 41–49. https://doi.org/10.1080/21678421.2025.2450805

Vasta, R., Ombelet, F., Hobin, F., Manera, U., Ammar, A. C., Caravaca Puchades, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Holmdahl, O., Ingre, C., Lamaire, N., McDermott, C., Mac Domhnaill, É., McDonough, H., McFarlane, R., Mouzouri, M., Opie-Martin, S., Povedano Panadés, M., Sennfält, S., Shaw, P., Terrafeta Pastor, C., van den Berg, L.H., van Eijk, R.P.A., Veldink, J.H., Weemering, D.N, Van Damme, P. and Chiò, A. (2025). Real-world prognostic role of riluzole use in ALS: a multi-center study from PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 50–60. https://doi.org/10.1080/21678421.2025.2472889

Sennfält, S., Al-Chalabi, A., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Lamaire, N., Mac Domhnaill, É., McDonough, H., Manera, U., McDermott, C.J., McFarlane, R., Mouzouri, M., Ombelet, F., Opie-Martin, S., Povedano Panadés, M., Shaw, P., Terrafeta Pastor, C., Van Damme, P., van den Berg, L., van Eijk, R.P.A., Vasta, R., Veldink, J.H., Weemering, D.N. and Ingre, C. (2025). Respiratory function, survival, and NIV prevalence over time in ALS – a PRECISION ALS study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 61–72. https://doi.org/10.1080/21678421.2025.2454923

 

Further Publications

De Vocht, J., Costello, E., McHutchison, C., Radakovic, R., Foucher, J., McMackin, R., Peelo, C., van den Berg, L., Hardiman, O., Van Damme, P., Pender, N., Abrahams, S., Lulé, D.; first ICNALS Workshop`. (2026). Prioritizing neuropsychological research and care in Amyotrophic Lateral Sclerosis (ALS): building an international neuropsychological framework for ALS. Amyotroph Lateral Scler Frontotemporal Degener. 6:1-4. https://doi.org/10.1080/21678421.2025.2610290. Epub ahead of print. PMID: 41493066.

McFarlane, R., Ross, R., Domhnaill, É.M., Chiò, A., Corcia, P., Ingre, C., McDermott, C.J., Panadés, M.P., Shaw, P.J., van Damme. P., van den Berg. L., Al-Chalabi, A., Walsh, C., Hardiman, O. (2025). Dynamic modelling of the ALSFRS-R: leveraging population-based scores using neural networks. eBioMedicine, Vol. 122, Article 106029. https://doi.org/10.1016/j.ebiom.2025.106029.

Weinreich, M., McDonough, H., Heverin, M., Mac Domhnaill, É., Yacovzada, N., Magen, I., Cohen, Y., Harvey, C., Elazzab, A., Gornall, S., Boddy, S., Alix, J.J.P., Kurz, J.M., Kenna, K.P., Zhang, S., Iacoangeli, A., Al-Khleifat, A., Snyder, M.P., Hobson, E., Chio, A., Malaspina, A., Hermann, A., Ingre, C., Vazquez Costa, J., van den Berg, L., Povedano Panadés, M., van Damme, P., Corcia, P., de Carvalho, M., Al-Chalabi, A., Hornstein, E., Elhaik, E., Shaw, P.J., Hardiman, O., McDermott, C., Cooper-Knock, J. (2025). Optimised machine learning for time-to-event prediction in healthcare applied to timing of gastrostomy in ALS: a multi-centre, retrospective model development and validation study. eBioMedicine, Vol. 121, Article 105962. https://doi.org/10.1016/j.ebiom.2025.105962.

Impey, S., Jordan, S., Douris, L., Stephens, G., Hederman, L., Heverin, M., Galvin, M., McDonnell, R., Gibbons, F., Hardiman, O. (2025). A Proposed Feasibility Process: Lessons Learned from the Precision MS Project. Stud Health Technol Inform. 2025 Oct 2;332:268-272. doi: 10.3233/SHTI251542. PMID: 41041787. https://pubmed.ncbi.nlm.nih.gov/41041787/.

Dukic, S., van Veenhuijzen, K., Westeneng, H.J., McMackin, R., van Eijk, R.P.A., Sleutjes, B.T.H.M., Nasseroleslami, B., Hardiman, O., van den Berg, L.H. (2025). Altered EEG Response of the Parietal Network in Asymptomatic C9orf72 Carriers. Hum Brain Mapp. 46(11):e70275. https://doi.org/10.1002/hbm.70275. PMID: 40709577; PMCID: PMC12290479.

Fasano, A., Vacchiano, V., Bonan, L., McMackin, R., Nasseroleslami, B., Hardiman, O.,
Liguori, R. (2025). Neurophysiological biomarkers of networks impairment in amyotrophic lateral sclerosis. J Neurol. 14;272(8):507. https://doi.org/10.1007/s00415-025-13229-3. PMID: 40658257.

Costello, E., De Vocht, J., Beswick, E., Mac Domhnaill, É., Peelo, C., Foucher, J., Mayberry, E.J., Chiwera, T., Hiemstra, F., Caravaca Puchades, A., Iazzolino, B., Palumbo, F., Alves, I., Kasper, E., Galvin, M., Heverin, M., Ingre, C., McDermott, C.J., Shaw, P., Al-Chalabi, A., Van Den Berg, L.H., Povedano Panadés, M., Chiò, A., De Carvalho, M., Bencheikh, S., Corcia, P., Mouzouri, M., Hermann, A., Abrahams, S., Pender, N., Van Damme, P., Hardiman, O. (2025). Neuropsychological assessment practices in PRECISION-ALS: challenges and opportunities for harmonization. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 1–10. https://doi.org/10.1080/21678421.2025.2527877. 

Mehra, P., Metzger, M., Bista, S., Giglia, E.R., Plaitano, S., Nash, L., Mac Domhnaill, É., Mitchell, M., Khatabi, A., Bede, P., Lowery, M., Muthuraman, M., Hardiman, O., Nasseroleslami, B. (2025). SC10X/U: A high-density electrode system for standardised surface recording of neural activity of the cervical spinal cord. Clin Neurophysiol. 177:2110824. https://doi.org/10.1016/j.clinph.2025.2110824. Epub 2025 Jun 28. PMID: 40618473.

Tappenden, P., Hardiman, O., Kwon, S.H., Mon-Yee, M., Galvin, M., McDermott, C. (2024). ALS-CarE Study Group. A Model-Based Economic Evaluation of Hypothetical Treatments for Amyotrophic Lateral Sclerosis in the UK: Implications for Pricing of New and Emerging Health Technologies. Pharmacoeconomics. 42(9):1003-1016. doi: 10.1007/s40273-024-01395-7. Epub: 2024 May 31. PMID: 38819717.

De La Varga Anjoja, F. (2024). Query builder for longitudinal multimodal data set for Precision ALS. [Bachelor’s Thesis, Barcelona Faculty of Informatics (FIB) & Polytechnic University of Catalonia (UPC)]. UPC repository. http://hdl.handle.net/2117/414299.

Impey, S., Turner, J., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., O’Meara, C., De La Varga Antoja, F., Kommala, J., Nicholson, M., Farrell, D., Morrin, E., Galvin, M., Heverin, M., MacDomhnaill, É., McFarlane, R., Meldrum, D., Murray, D., Hardiman, O. (2023, November 13). Dataset, Usability and Process – Developing an Interdisciplinary, Multi-modal Data Collection Tool and Platform for a Rare Disease. The Eighth International Conference on Informatics and Assistive Technologies for Health-Care, Medical Support and Wellbeing, HEALTHINFO 2023, pp26-29. URL.

McFarlane, R., Peelo, C., Galvin, M., Heverin, M., Hardiman, O. (2023). Epidemiologic Trends of Amyotrophic Lateral Sclerosis in Ireland, 1996–2021. Neurology, 101(19):e1905-e1912. doi: 10.1212/wnl.0000000000207797.

Impey, S., Berry, D., Furtado, S., Galvin, M., Grogan, L., Hardiman, O., Hederman, L., Heverin, M., Wade, V., Douris, L., O’Sullivan, D., Stephens, G. (2023). Eliciting and Confirming Data, Information, Knowledge and Wisdom in a Specialist Health Care Setting. International Journal of Computing and Information Engineering, 17(6):350-360. URL.

McFarlane, R.,  Galvin, M.,  Heverin, M.,  Mac Domhnaill, É., Murray , D., Meldrum, D.,  Bede , P., Bolger, A.,  Hederman, L., Impey, S., Stephens, G., O’Meara, C., Wade, V., Al-Chalabi, A., Chiò, A., Corcia, P., van Damme, P.,  Ingre, C., McDermott, C.,  Povedanos, van den Berg, L., Hardiman, O. (2023). PRECISION ALS—an integrated pan European patient data platform for ALS. Amyotroph Lateral Scler Frontotemporal Degener, 24(5-6):389-393. doi: 10.1080/21678421.2023.2215838.

Impey, S., Turner, J., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., O’Meara, C., De La Varga, F., Kommala, J., Nicholson, M., Farrell, D., Morrin, E., Galvin, M. (2024). Developing a Process for Gathering and Managing Multi-site User Feedback for a Data Collection Project in a Rare Disease Setting. Using Design Science to Explicate a Knowledge Contribution. International Journal on Advances in Life Sciences, 16(1-2):56-66. URL.

Turner, J., Impey, S., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., Hamed, R., O’Meara, C., de la Varga, F., Kommala, J., Nicholson, M., Farrell, D., Galvin, M., Heverin, M., Mac Domhnaill, É., McFarlane, R., Meldrum, D., Murray, D., Hardiman, O. (2024). Data and Process Harmonisation of Multi-National, Multi-Site Research Data. Stud Health Technol Inform. 316:1411-1412. PMID: 39176644 doi:10.3233/SHTI240675.

Presentations

ENCALS Meeting, Madrid, Spain, June 24th – 26th, 2026

Oral Presentations

Rare Pathogenic Neurologic And Neurodevelopmental Variants In ALS Associate With Onset, Survival And Family History. (Ciara O’Donoghue).

The Shared And Differential Genetic Risk Factors Of Neurodegeneration. (Tomas Gomes).

Examining The Age-Incidence Curves Of ALS Across European Registers. (Robert McFarlane).

Somatosensory Neurological Soft Signs Associate With Executive Function In Unaffected Familial ALS Relatives Independent Of C9orf72 Status. (Sarah Darcy).

The Precision ALS Research Platform. (Gary McDarby).

Rapid-Fire Oral Presentations

Frontotemporal Alpha Power Is Reduced In People With ALS But Alpha Modulation Remains Intact. (Narin Suleyman).

Identity-By-Descent Analyses Reveals C9orf72 Discordance, Cryptic Relatedness, And Expanded ALS Pedigrees. (Ciara O’Donoghue).

Poster Presentations

The Inclusion Of Social Determinants Of Health Enhances The Precision Of Clinical Outcomes In Real World Data. PRECISION ALS. (Miriam Galvin).

LLM–Based Conversational Analytics For ALS Use Cases From The Precision-ALS Framework. (Tamara Matthews).

Investigating Network-Based ALS Subtypes Using Motor And Cognitive Event-Related Potentials. (Gabriel Palma).

Directional Sensorimotor Network Alterations In ALS Revealed By A Combined EEG–EMG Connectivity Framework. (Zahra Eshagh Nimvari).

Oligogenic Action Of Pleiotropic Neurodegenerative Repeat Expansions Via Cooperative RNA Phase Separation. (Guste Venslovaite).

Long Interval Intracortical Inhibition Is Similar In People With And Without Amyotrophic Lateral Sclerosis. (Roisin McMackin).

Profiling The Clinical Characteristics Of UNC13A Rs12608932 Carriers In Ireland. (Ross Byrne).

Integrative Cross-Trait Analysis Identifies Shared Genes Driving Cognitive Deficits In ALS-FTD Spectrum. (Emrah Kacar).

To Go Or Not To Go: Reproducibility Of N2 Amplitude Alterations In Amyotrophic Lateral Sclerosis. (Eva Woods).

Dissociable Mismatch Negativity Signatures Of ALS And Neuropsychiatric Endophenotype. (Ciara O’Donoghue).

A Multi-Level Framework For Technical Drift Detection And Harmonization In A Single-Site ALS MRI Cohort. (Muhammad Abeer Irfan).

Volumetric Deep Learning Embeddings As Imaging Biomarkers For Functional Decline And Progression In ALS. (Muhammad Abeer Irfan).

Temporal Knowledge Graph Embedding For ALS Progression Prediction. (Erfan Amirzadeh Shams).

Placement Shapes Measurement: Characterising Wrist And Hip Actigraphy In ALS. (Marc Elliot).

Identity-By-Descent Analyses Reveals C9orf72 Discordance, Cryptic Relatedness, And Expanded ALS Pedigrees. (Ciara O’Donoghue).

Frontotemporal Alpha Power Is Reduced In People With ALS But Alpha Modulation Remains Intact. (Narin Suleyman).

34th International Symposium on ALS/MND: Motor Neuron Disease Association, Basel, Switzerland, December 7th, 2023

Oral Presentations

Biogen Q3: Mapping the natural history of ALS: Time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort [Invited Oral Presentation]. 34th International Symposium on ALS/MND: Motor Neuron Disease Association, Basel, Switzerland, Dec 7th 2023.

Query builder for longitudinal multimodal data set for Precision ALS [Presentation opened to the public]. Bachelor’s thesis oral defense, Barcelona Faculty of Informatics (FIB), Polytechnic University of Catalonia (UPC). Bachelor’s thesis oral defense, Barcelona Faculty of Informatics (FIB), Polytechnic University of Catalonia (UPC), Barcelona, May 15th 2024.

Transitioning from Master to Digital Worksheet: Abstracting a Question Set for a Digital Data Collection Tool for ALS [Prototype Demonstration]. 19th International Conference on Design Science Research in Information Systems and Technology (DESRIST 2024), Trollhättan, Sweden, June 3rd-5th 2024.

Transforming Patient Care Through Clinical AI Implementation [Smart Health Summit – Panel Discussion]. Discussion on harmonisation challenges in Precision ALS. Croke Park Conference Centre, Dublin, September 10th 2024.

Harmonising multi-site, multi-type clinical research data: The Precision ALS experience [Workshop, STC Conference]. Collaboration across disciplines for the health of people, animals and ecosystems, Timisoara, Romania, November 27th-29th 2024.

Poster Presentations

PRECISION ALS: A Bespoke Framework for Cross National Prospective Data Collection and Analysis. 34th International Symposium on ALS/MND: Motor Neuron Disease Association.

Collection Application and Platform for a Rare Disease (Precision ALS). 34th International Symposium on ALS/MND: Motor Neuron Disease Association.

Biogen Q2: Analyzing ALS progression: Unveiling rates patterns and variability in the ALSFRS-R using retrospective data from the PRECISION ALS Consortium.

Biogen Q4: Real-world evidence for the effect of riluzole treatment on survival in patients with Amyotrophic Lateral Sclerosis: a retrospective analysis of PRECISION-ALS.

Biogen Q5: Respiratory function survival and NIV prevalence over time in ALS – a retrospective study from PRECISION ALS.

Biogen Q6: PRECISION-ALS: Examining the impact of Amyotrophic Lateral Sclerosis (ALS) on working status and caregiver assistance using population-based European databases.