Research & Literature

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Baets J, Duan X, Wu Y, et al.

Brain : a journal of neurology 2015; (138(Pt 4)):845-61 doi:10.1093/brain/awv010.

The replication foci targeting sequence (RFTS) of DNMT1 functions as a potent histone H3 binding domain regulated by autoinhibition.

Misaki T, Yamaguchi L, Sun J, et al.

Biochemical and biophysical research communications 2016; (470(3)):741-747 doi:10.1016/j.bbrc.2016.01.029.

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency.

Fox R, Ealing J, Murphy H, et al.

Journal of the peripheral nervous system : JPNS 2016; (21(3)):150-3 doi:10.1111/jns.12178.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Kernohan KD, Cigana Schenkel L, Huang L, et al.

Clinical epigenetics 2016; (8()):91 doi:10.1186/s13148-016-0254-x.

Effect of sodium oxybate on disrupted nighttime sleep in patients with narcolepsy.

Roth T, Dauvilliers Y, Guinta D, et al.

Journal of sleep research 2017; (26(4)):407-414 doi:10.1111/jsr.12468.

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

Walker LA, Bourque P, Smith AM, Warman Chardon J

Neuropsychology 2017; (31(3)):292-303 doi:10.1037/neu0000322.

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.

Hadjivassiliou M, Martindale J, Shanmugarajah P, et al.

Journal of neurology, neurosurgery, and psychiatry 2017; (88(4)):301-309 doi:10.1136/jnnp-2016-314863.

Safety and efficacy of pitolisant on cataplexy in patients with narcolepsy: a randomised, double-blind, placebo-controlled trial.

Szakacs Z, Dauvilliers Y, Mikhaylov V, et al.

The Lancet. Neurology 2017; (16(3)):200-207 doi:10.1016/S1474-4422(16)30333-7.

Driving Safety and Fitness to Drive in Sleep Disorders.

Tippin J, Dyken ME

Continuum (Minneapolis, Minn.) 2017; (23(4, Sleep Neurology)):1156-1161 doi:10.1212/CON.0000000000000490.

Epidemiology of Cerebellar Diseases and Therapeutic Approaches.

Salman MS

Cerebellum (London, England) 2018; (17(1)):4-11 doi:10.1007/s12311-017-0885-2.

Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches.

Velázquez-Pérez LC, Rodríguez-Labrada R, Fernandez-Ruiz J

Frontiers in neurology 2017; (8()):472 doi:10.3389/fneur.2017.00472.

[A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom].

Watanabe M, Matsumoto Y, Okamoto K, et al.

Rinsho shinkeigaku = Clinical neurology 2017; (57(12)):753-758 doi:10.5692/clinicalneurol.cn-001043.

Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial.

Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, et al.

Movement disorders : official journal of the Movement Disorder Society 2018; (33(9)):1481-1487 doi:10.1002/mds.27437.

Treatment of paediatric narcolepsy with sodium oxybate: a double-blind, placebo-controlled, randomised-withdrawal multicentre study and open-label investigation.

Plazzi G, Ruoff C, Lecendreux M, et al.

The Lancet. Child & adolescent health 2018; (2(7)):483-494 doi:10.1016/S2352-4642(18)30133-0.

Advance Care Planning in Cognitively Impaired Older Adults.

deLima Thomas J, Sanchez-Reilly S, Bernacki R, et al.

Journal of the American Geriatrics Society 2018; (66(8)):1469-1474 doi:10.1111/jgs.15471.

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

Zheng W, Yan Z, He R, et al.

BMC neurology 2018; (18(1)):174 doi:10.1186/s12883-018-1177-2.

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).

Genis D, Ortega-Cubero S, San Nicolás H, et al.

Neurology 2018; (91(21)):e1988-e1998 doi:10.1212/WNL.0000000000006550.

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3.

Yuan X, Ou R, Hou Y, et al.

Frontiers in neurology 2019; (10()):110 doi:10.3389/fneur.2019.00110.

Advance care planning in progressive neurological diseases: lessons from ALS.

Seeber AA, Pols AJ, Hijdra A, et al.

BMC palliative care 2019; (18(1)):50 doi:10.1186/s12904-019-0433-6.

Advance Care Planning for People with Dementia: The Role of General Practitioners.

Bally KW, Krones T, Jox RJ

Gerontology 2020; (66(1)):40-46 doi:10.1159/000500809.

How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes.

van den Heuvel LM, Smets EMA, van Tintelen JP, Christiaans I

Journal of genetic counseling 2019; (28(5)):1042-1058 doi:10.1002/jgc4.1143.

Excessive daytime sleepiness in obstructive sleep apnea: implications for driving licenses.

Garbarino S

Sleep & breathing = Schlaf & Atmung 2020; (24(1)):37-47 doi:10.1007/s11325-019-01903-6.

A Case of A Sleepy Taxi Driver Presenting with Narcolepsy.

Miskoff JA, Chaudhri M

Cureus 2019; (11(6)):e4901 doi:10.7759/cureus.4901.

Diagnosis and Management of Dementia: Review.

Arvanitakis Z, Shah RC, Bennett DA

JAMA 2019; (322(16)):1589-1599 doi:10.1001/jama.2019.4782.

Disease-Associated Mutations G589A and V590F Relieve Replication Focus Targeting Sequence-Mediated Autoinhibition of DNA Methyltransferase 1.

Dolen EK, McGinnis JH, Tavory RN, et al.

Biochemistry 2019; (58(51)):5151-5159 doi:10.1021/acs.biochem.9b00749.

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

Postiglione E, Antelmi E, Pizza F, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2020; (16(1)):143-147 doi:10.5664/jcsm.8140.

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.

Maresca A, Del Dotto V, Capristo M, et al.

Human molecular genetics 2020; (29(11)):1864-1881 doi:10.1093/hmg/ddaa014.

Excessive Daytime Sleepiness and Safety Performance: Comparing Proactive and Reactive Approaches.

Gharibi V, Mokarami H, Cousins R, et al.

The international journal of occupational and environmental medicine 2020; (11(2)):95-107.

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

Vears DF, Ayres S, Boyle J, et al.

Twin research and human genetics : the official journal of the International Society for Twin Studies 2020; (23(3)):184-189 doi:10.1017/thg.2020.51.

Efficacy and safety of solriamfetol for excessive daytime sleepiness in narcolepsy and obstructive sleep apnea: a systematic review and meta-analysis of clinical trials.

Subedi R, Singh R, Thakur RK, et al.

Sleep medicine 2020; (75()):510-521 doi:10.1016/j.sleep.2020.09.019.

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.

Milne SC, Corben LA, Roberts M, et al.

BMJ open 2020; (10(12)):e040230 doi:10.1136/bmjopen-2020-040230.

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

Kikuchi JK, Nagashima Y, Mano T, et al.

Journal of molecular neuroscience : MN 2021; (71(9)):1796-1801 doi:10.1007/s12031-020-01784-5.

The Xyrem® (Sodium Oxybate) Risk Evaluation and Mitigation Strategy (REMS) Program in the USA: Results From 2016 to 2017.

Strunc MJ, Black J, Lillaney P, et al.

Drugs - real world outcomes 2021; (8(1)):15-28 doi:10.1007/s40801-020-00223-6.

Excessive Daytime Sleepiness: A Clinical Review.

Gandhi KD, Mansukhani MP, Silber MH, Kolla BP

Mayo Clinic proceedings 2021; (96(5)):1288-1301 doi:10.1016/j.mayocp.2020.08.033.

European guideline and expert statements on the management of narcolepsy in adults and children.

Bassetti CLA, Kallweit U, Vignatelli L, et al.

Journal of sleep research 2021; (30(6)):e13387 doi:10.1111/jsr.13387.

European guideline and expert statements on the management of narcolepsy in adults and children.

Bassetti CLA, Kallweit U, Vignatelli L, et al.

European journal of neurology 2021; (28(9)):2815-2830 doi:10.1111/ene.14888.

Defining the Critical Components of Informed Consent for Genetic Testing.

Ormond KE, Borensztein MJ, Hallquist MLG, et al.

Journal of personalized medicine 2021; (11(12)) doi:10.3390/jpm11121304.

Psychosis in Alzheimer disease - mechanisms, genetics and therapeutic opportunities.

Ismail Z, Creese B, Aarsland D, et al.

Nature reviews. Neurology 2022; (18(3)):131-144 doi:10.1038/s41582-021-00597-3.

Advance care planning in neurologic illness.

Macchi ZA, Lum HD

Handbook of clinical neurology 2022; (190()):129-148 doi:10.1016/B978-0-323-85029-2.00004-X.

Evaluation of Cerebellar Ataxic Patients.

Radmard S, Zesiewicz TA, Kuo SH

Neurologic clinics 2023; (41(1)):21-44 doi:10.1016/j.ncl.2022.05.002.

Patients' Perspective in Hereditary Ataxia.

Gorcenco S, Karremo C, Puschmann A

Cerebellum (London, England) 2024; (23(1)):82-91 doi:10.1007/s12311-022-01505-1.

DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation.

Menon PJ, Bogdanova-Mihaylova P, McDermott G, et al.

Journal of the peripheral nervous system : JPNS 2023; (28(3)):508-512 doi:10.1111/jns.12560.

Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.

Davis KN, Qu PP, Ma S, et al.

Human molecular genetics 2023; (32(21)):3105-3120 doi:10.1093/hmg/ddad123.

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

Bremova-Ertl T, Hofmann J, Stucki J, et al.

Cells 2023; (12(18)) doi:10.3390/cells12182314.

The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.

Dratch L, Bardakjian TM, Johnson K, et al.

Biology 2024; (13(2)) doi:10.3390/biology13020093.

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

Vears DF, McLean A, La Spina C, et al.

Twin research and human genetics : the official journal of the International Society for Twin Studies 2024; (27(2)):120-127 doi:10.1017/thg.2024.9.

Narcolepsy: an interface among neurology, immunology, sleep, and genetics.

Coelho FMS

Arquivos de neuro-psiquiatria 2024; (82(6)):1-9 doi:10.1055/s-0044-1779299.

Future policy and research for advance care planning in dementia: consensus recommendations from an international Delphi panel of the European Association for Palliative Care.

Nakanishi M, Martins Pereira S, Van den Block L, et al.

The lancet. Healthy longevity 2024; (5(5)):e370-e378 doi:10.1016/S2666-7568(24)00043-6.

A systematic review on the contribution of DNA methylation to hearing loss.

Patil V, Perez-Carpena P, Lopez-Escamez JA

Clinical epigenetics 2024; (16(1)):88 doi:10.1186/s13148-024-01697-9.

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Milne SC, Roberts M, Williams S, et al.

Annals of neurology 2025; (97(3)):409-424 doi:10.1002/ana.27130.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.

Matsugi A, Bando K, Kondo Y, et al.

Frontiers in neurology 2024; (15()):1491142 doi:10.3389/fneur.2024.1491142.

Optimizing Advance Care Planning in Dementia: Recommendations From a 33-Country Delphi Study.

van der Steen JT, Van den Block L, Nakanishi M, et al.

Journal of pain and symptom management 2025; (69(6)):e755-e772 doi:10.1016/j.jpainsymman.2025.02.471.

Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.

Abenza-Abildúa MJ, Palmí-Cortés I, Ojeda-Ruiz de Luna J, et al.

Acta neurologica Belgica 2025; (125(5)):1395-1399 doi:10.1007/s13760-025-02776-1.

Three-Week Video- and Home-Based Training Program for People with Ataxia: A Pilot Randomized Controlled Trial.

Rentz C, Reinhardt A, Jung N, et al.

Movement disorders clinical practice 2025; (12(12)):2154-2167 doi:10.1002/mdc3.70225.

Long-Term Effects of Annual Intensive Rehabilitation in Patients with Hereditary Pure Cerebellar Ataxia: A 7-year Follow-up Study.

Bando K, Kondo Y, Ariake Y, et al.

Cerebellum (London, England) 2025; (24(5)):150 doi:10.1007/s12311-025-01899-8.

Hummingbird sign in a patient with DNMT1-related disorder.

Tamura M, Sugiyama A, Hirano S, et al.

Neurocase 2025; (31(5)):239-244 doi:10.1080/13554794.2025.2560858.

Fatigue Limits Motor and Cognitive Improvements after High-intensity Exercise Prior to Balance Training over Telehealth in People with Spinocerebellar Ataxia.

Macpherson CE, Awad F, Rana V, et al.

International journal of telerehabilitation 2025; (17(2)):6713 doi:10.63144/ijt.2025.6713.