Research & Literature

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.

Tao Z, Wang H, Xia Q, et al.

Human molecular genetics 2015; (24(9)):2426-41 doi:10.1093/hmg/ddv005.

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.

Rohrer JD, Isaacs AM, Mizielinska S, et al.

The Lancet. Neurology 2015; (14(3)):291-301.

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

Cooper-Knock J, Higginbottom A, Stopford MJ, et al.

Acta neuropathologica 2015; (130(1)):63-75 doi:10.1007/s00401-015-1429-9.

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.

Schipper LJ, Raaphorst J, Aronica E, et al.

Neuropathology and applied neurobiology 2016; (42(6)):547-60 doi:10.1111/nan.12284.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Gijselinck I, Van Mossevelde S, van der Zee J, et al.

Molecular psychiatry 2016; (21(8)):1112-24 doi:10.1038/mp.2015.159.

The Evolution of Caregiver Burden in Frontotemporal Dementia with and without Amyotrophic Lateral Sclerosis.

Hsieh S, Leyton CE, Caga J, et al.

Journal of Alzheimer's disease : JAD 2016; (49(3)):875-85 doi:10.3233/JAD-150475.

Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis.

Chen Y, Lin Z, Chen X, et al.

Neurobiology of aging 2016; (38()):217.e15-217.e22 doi:10.1016/j.neurobiolaging.2015.11.016.

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.

Wilke C, Pomper JK, Biskup S, et al.

Journal of neurology 2016; (263(3)):558-74 doi:10.1007/s00415-016-8021-7.

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

Todd TW, Petrucelli L

Journal of neurochemistry 2016; (138 Suppl 1()):145-62 doi:10.1111/jnc.13623.

Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Malek N, Newman EJ

Acta neurologica Scandinavica 2017; (135(1)):25-33 doi:10.1111/ane.12609.

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions.

Cleary EM, Pal S, Azam T, et al.

Molecular and cellular probes 2016; (30(4)):218-224 doi:10.1016/j.mcp.2016.06.001.

Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial.

, Frank S, Testa CM, et al.

JAMA 2016; (316(1)):40-50 doi:10.1001/jama.2016.8655.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, et al.

JAMA neurology 2016; (73(9)):1105-14 doi:10.1001/jamaneurol.2016.2215.

Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.

Vatsavayai SC, Yoon SJ, Gardner RC, et al.

Brain : a journal of neurology 2016; (139(Pt 12)):3202-3216 doi:10.1093/brain/aww250.

The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion.

Devenney EM, Landin-Romero R, Irish M, et al.

NeuroImage. Clinical 2017; (13()):439-445 doi:10.1016/j.nicl.2016.11.028.

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.

Aoki Y, Manzano R, Lee Y, et al.

Brain : a journal of neurology 2017; (140(4)):887-897 doi:10.1093/brain/awx024.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.

Gendron TF, Chew J, Stankowski JN, et al.

Science translational medicine 2017; (9(383)) doi:10.1126/scitranslmed.aai7866.

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

Crook A, Williams K, Adams L, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2017; (18(7-8)):475-485 doi:10.1080/21678421.2017.1332079.

Structural and functional brain signatures of C9orf72 in motor neuron disease.

Agosta F, Ferraro PM, Riva N, et al.

Neurobiology of aging 2017; (57()):206-219 doi:10.1016/j.neurobiolaging.2017.05.024.

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

Ng ASL, Tan EK

Journal of medical genetics 2017; (54(9)):591-597 doi:10.1136/jmedgenet-2017-104752.

Revisiting the neuropsychiatry of Huntington's disease.

Teixeira AL, de Souza LC, Rocha NP, et al.

Dementia & neuropsychologia 2016; (10(4)):261-266 doi:10.1590/s1980-5764-2016dn1004002.

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.

Swinnen B, Bento-Abreu A, Gendron TF, et al.

Acta neuropathologica 2018; (135(3)):427-443 doi:10.1007/s00401-017-1796-5.

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43.

Nonaka T, Masuda-Suzukake M, Hosokawa M, et al.

Human molecular genetics 2018; (27(15)):2658-2670 doi:10.1093/hmg/ddy174.

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

Meeter LHH, Gendron TF, Sias AC, et al.

Annals of clinical and translational neurology 2018; (5(5)):583-597 doi:10.1002/acn3.559.

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.

Zhang YJ, Gendron TF, Ebbert MTW, et al.

Nature medicine 2018; (24(8)):1136-1142 doi:10.1038/s41591-018-0071-1.

Respiratory Failure in Amyotrophic Lateral Sclerosis.

Niedermeyer S, Murn M, Choi PJ

Chest 2019; (155(2)):401-408 doi:10.1016/j.chest.2018.06.035.

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.

Ebbert MTW, Farrugia SL, Sens JP, et al.

Molecular neurodegeneration 2018; (13(1)):46 doi:10.1186/s13024-018-0274-4.

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.

Volk AE, Weishaupt JH, Andersen PM, et al.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018; (30(2)):252-258 doi:10.1007/s11825-018-0185-3.

C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.

Bourinaris T, Houlden H

Movement disorders clinical practice 2018; (5(6)):575-585 doi:10.1002/mdc3.12677.

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.

Crook A, McEwen A, Fifita JA, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2019; (20(5-6)):310-316 doi:10.1080/21678421.2019.1588904.

Schizophrenia Phenotype Preceding Behavioral Variant Frontotemporal Dementia Related to C9orf72 Repeat Expansion.

Sellami L, St-Onge F, Poulin S, Laforce R

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2019; (32(2)):120-123 doi:10.1097/WNN.0000000000000189.

The optimisation of noninvasive ventilation in amyotrophic lateral sclerosis: a systematic review.

O'Brien D, Stavroulakis T, Baxter S, et al.

The European respiratory journal 2019; (54(3)) doi:10.1183/13993003.00261-2019.

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.

van der Ende EL, Meeter LH, Poos JM, et al.

The Lancet. Neurology 2019; (18(12)):1103-1111 doi:10.1016/S1474-4422(19)30354-0.

The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort.

Rooney J, Murray D, Campion A, et al.

HRB open research 2019; (2()):23 doi:10.12688/hrbopenres.12940.1.

Amyotrophic lateral sclerosis: a clinical review.

Masrori P, Van Damme P

European journal of neurology 2020; (27(10)):1918-1929 doi:10.1111/ene.14393.

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.

Minardi R, Licchetta L, Baroni MC, et al.

Clinical genetics 2020; (98(5)):477-485 doi:10.1111/cge.13823.

Crushing deutetrabenazine for treatment of tardive dyskinesia in a patient with severe orofacial symptoms: A case report.

Wietholter JP, Sizemore J, Piechowski K

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2020; (77(18)):1477-1481 doi:10.1093/ajhp/zxaa205.

Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases.

Palermo G, Mazzucchi S, Della Vecchia A, et al.

Molecular neurobiology 2020; (57(11)):4667-4691 doi:10.1007/s12035-020-02035-9.

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.

Rikos D, Marogianni C, Provatas A, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2020; (10()):5 doi:10.5334/tohm.61.

Cognitive and behavioural impairment in amyotrophic lateral sclerosis.

Pender N, Pinto-Grau M, Hardiman O

Current opinion in neurology 2020; (33(5)):649-654 doi:10.1097/WCO.0000000000000862.

[C9orf72-associated frontotemporal dementia in the Russian population].

Shpilyukova YA, Fedotova EY, Berdnikovich ES, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2020; (120(9)):98-106 doi:10.17116/jnevro202012009198.

Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.

Goldman J, Xie S, Green D, et al.

Journal of genetic counseling 2020; doi:10.1002/jgc4.1342.

The ethical implications of genetic testing in neurodegenerative diseases: A systematic review.

Nurmi SM, Halkoaho A, Moilanen J, et al.

Scandinavian journal of caring sciences 2021; (35(4)):1057-1074 doi:10.1111/scs.12932.

Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.

Kmetzsch V, Anquetil V, Saracino D, et al.

Journal of neurology, neurosurgery, and psychiatry 2021; (92(5)):485-493 doi:10.1136/jnnp-2020-324647.

C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.

Alva-Diaz C, Alarcon-Ruiz CA, Pacheco-Barrios K, et al.

Frontiers in genetics 2020; (11()):551780 doi:10.3389/fgene.2020.551780.

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.

Amador MDM, Gargiulo M, Boucher C, et al.

Neurology. Genetics 2021; (7(1)):e538 doi:10.1212/NXG.0000000000000538.

Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Benussi A, Premi E, Gazzina S, et al.

JAMA network open 2021; (4(1)):e2030194 doi:10.1001/jamanetworkopen.2020.30194.

Unravelling the clinical spectrum and the role of repeat length in C9ORF72 repeat expansions.

van der Ende EL, Jackson JL, White A, et al.

Journal of neurology, neurosurgery, and psychiatry 2021; (92(5)):502-509 doi:10.1136/jnnp-2020-325377.

State-of-the-art pharmacological approaches to reduce chorea in Huntington's disease.

Gibson JS, Claassen DO

Expert opinion on pharmacotherapy 2021; (22(8)):1015-1024 doi:10.1080/14656566.2021.1876666.

C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years.

Roggenbuck J

Neurology. Genetics 2021; (7(1)):e542 doi:10.1212/NXG.0000000000000542.

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.

Chintalaphani SR, Pineda SS, Deveson IW, Kumar KR

Acta neuropathologica communications 2021; (9(1)):98 doi:10.1186/s40478-021-01201-x.

Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.

Crook A, Jacobs C, Newton-John T, et al.

Alzheimer disease and associated disorders 2021; (35(4)):374-385 doi:10.1097/WAD.0000000000000458.

Motor neuron disease beginning with frontotemporal dementia: clinical features and progression.

Gromicho M, Kuzma-Kozakiewicz M, Szacka K, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2021; (22(7-8)):508-516 doi:10.1080/21678421.2021.1910309.

Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications.

Saracino D, Dorgham K, Camuzat A, et al.

Journal of neurology, neurosurgery, and psychiatry 2021; (92(12)):1278-1288 doi:10.1136/jnnp-2021-326914.

Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.

Wilson KM, Katona E, Glaria I, et al.

Journal of neurology, neurosurgery, and psychiatry 2022; (93(7)):761-771 doi:10.1136/jnnp-2021-328710.

How can we define the presymptomatic C9orf72 disease in 2022? An overview on the current definitions of preclinical and prodromal phases.

Saracino D, Le Ber I

Revue neurologique 2022; (178(5)):426-436 doi:10.1016/j.neurol.2022.03.007.

Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD.

Liu Y, Andreucci A, Iwamoto N, et al.

Molecular therapy. Nucleic acids 2022; (28()):558-570 doi:10.1016/j.omtn.2022.04.007.

Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.

Kartanou C, Kontogeorgiou Z, Rentzos M, et al.

Journal of the neurological sciences 2022; (442()):120450 doi:10.1016/j.jns.2022.120450.

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.

Meijboom KE, Abdallah A, Fordham NP, et al.

Nature communications 2022; (13(1)):6286 doi:10.1038/s41467-022-33332-7.

Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.

Colombo E, Poletti B, Maranzano A, et al.

Journal of neurology 2023; (270(2)):898-908 doi:10.1007/s00415-022-11433-z.

NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.

Manini A, Gagliardi D, Meneri M, et al.

Scientific reports 2023; (13(1)):3187 doi:10.1038/s41598-023-30393-6.

Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series.

White LM, Boardman J, Lilleker J, et al.

Journal of medical genetics 2023; (60(10)):1016-1020 doi:10.1136/jmg-2022-109016.

Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington's disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trial.

Furr Stimming E, Claassen DO, Kayson E, et al.

The Lancet. Neurology 2023; (22(6)):494-504 doi:10.1016/S1474-4422(23)00127-8.

C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia.

Kortazar-Zubizarreta I, Manero-Azua A, Afonso-Agüera J, Perez de Nanclares G

Journal of personalized medicine 2023; (13(9)) doi:10.3390/jpm13091396.

Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.

Sattler R, Traynor BJ, Robertson J, et al.

Neurology and therapy 2023; (12(6)):1821-1843 doi:10.1007/s40120-023-00548-8.

Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.

Van Wijk IF, Van Eijk RPA, Van Boxmeer L, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2024; (25(1-2)):188-196 doi:10.1080/21678421.2023.2272187.

Diagnostic odyssey of Guillain-Barré syndrome in children.

Kobayashi Takahashi Y, Hayakawa I, Abe Y

Brain & development 2024; (46(2)):108-113 doi:10.1016/j.braindev.2023.10.004.

G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.

Rothstein JD, Baskerville V, Rapuri S, et al.

Acta neuropathologica 2023; (147(1)):1 doi:10.1007/s00401-023-02652-3.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.

Babu S, Nicholson KA, Rothstein JD, et al.

Brain : a journal of neurology 2024; (147(9)):2998-3008 doi:10.1093/brain/awae109.

Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.

Stefanova E, Marjanović A, Dobričić V, et al.

Neurogenetics 2024; (25(3)):193-200 doi:10.1007/s10048-024-00766-8.

Concurrent Amyotrophic Lateral Sclerosis and Huntington's Disease.

Takahashi R, Furuta M, Nagashima K, Ikeda Y

Internal medicine (Tokyo, Japan) 2025; (64(2)):297-300 doi:10.2169/internalmedicine.3232-23.

Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.

Howard J, Chaouch A, Douglas AGL, et al.

European journal of human genetics : EJHG 2025; (33(1)):7-13 doi:10.1038/s41431-024-01718-4.

Antidopaminergic medications in Huntington's disease.

Tan AM, Geva M, Goldberg YP, et al.

Journal of Huntington's disease 2025; (14(1)):16-29 doi:10.1177/18796397241304312.

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics.

Mizielinska S, Hautbergue GM, Gendron TF, et al.

The Lancet. Neurology 2025; (24(3)):261-274 doi:10.1016/S1474-4422(25)00026-2.

Initiating non-invasive ventilation in patients with Amyotrophic Lateral Sclerosis in The Netherlands: A centralised approach to respiratory care.

Jaspers Focks RJ, Helleman J, van den Berg LH, et al.

Journal of neuromuscular diseases 2025; (12(3)):372-381 doi:10.1177/22143602251319167.

Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case-Control Study.

Ghezzi A, Gianferrari G, Baldassarri E, et al.

Genes 2025; (16(3)) doi:10.3390/genes16030309.

Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS.

McEachin ZT, Chung M, Stratton SA, et al.

Cell 2025; (188(23)):6424-6435.e17 doi:10.1016/j.cell.2025.07.045.

Efficacy and Safety of VMAT-2 Inhibitors and Dopamine Stabilizers for Huntington's Chorea: A Systematic Review, Meta-Analysis, and Trial Sequential Analysis.

Floridia Rietmann LM, Romano C, Beltrán Covarrubias SA, et al.

Medical sciences (Basel, Switzerland) 2025; (13(3)) doi:10.3390/medsci13030201.

Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis.

Hostetler N, Zakutney S, Pringle CE, et al.

Journal of neuromuscular diseases 2026; (13(4)):808-816 doi:10.1177/22143602251380427.

Cumulative incidence of motor and cognitive features in the amyotrophic lateral sclerosis-frontotemporal degeneration spectrum.

Spencer BE, Xie SX, Ohm DT, et al.

Brain communications 2025; (7(6)):fcaf405 doi:10.1093/braincomms/fcaf405.

Lessons learned from 30 years of presymptomatic testing in Huntington Disease.

Pierron L, Hébert M, Gargiulo M, Durr A

Revue neurologique 2025; (181(9)):852-862 doi:10.1016/j.neurol.2025.07.009.

Genetic counseling and testing for dementia - A scoping review of patient and relatives experiences and outcomes.

Chen G, Sexton A

Patient education and counseling 2026; (143()):109424 doi:10.1016/j.pec.2025.109424.

Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.

Hoffmann K, White S, Sexton A

Journal of Huntington's disease 2026; (15(3)):293-316 doi:10.1177/18796397251411109.

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Cardoso F, Maia D, Maciel R, et al.

Brain : a journal of neurology 2026; (149(6)):1860-1873 doi:10.1093/brain/awag038.

Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes.

Jiang X, Schaeffer L, Patni D, et al.

Science (New York, N.Y.) 2026; (391(6785)):eadv2600 doi:10.1126/science.adv2600.

Safety and efficacy of VMAT2 inhibitors in Huntington Disease: A systematic review.

Baghaei A, Dehnavi AZ, Hashempour Z, et al.

Parkinsonism & related disorders 2026; (145()):108209 doi:10.1016/j.parkreldis.2026.108209.

Age-based risk estimates for C9orf72RE-related diseases: Theoretical developments and added value for genetic counseling.

de Vienne D, de Vienne DM

PLoS genetics 2026; (22(7)):e1012230 doi:10.1371/journal.pgen.1012230.

Practical recommendations for the treatment of chorea associated with Huntington's disease: An expert consensus.

Furr Stimming E, Bang J, Brown A, et al.

Journal of Huntington's disease 2026; 18796397261468482 doi:10.1177/18796397261468482.

Cognitive and behavioral manifestations of the C9orf72 mutation in Amyotrophic Lateral Sclerosis: an age, education, and gender-matched cohort study.

O'Farrell S, Holland MC, Peelo C, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2026; 1-8 doi:10.1080/21678421.2026.2721333.