Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance.

Bosch MK, Carrasquillo Y, Ransdell JL, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2015; (35(17)):6752-69 doi:10.1523/JNEUROSCI.2663-14.2015.

The effect of a task-specific locomotor training strategy on gait stability in patients with cerebellar disease: a feasibility study.

Im SJ, Kim YH, Kim KH, et al.

Disability and rehabilitation 2017; (39(10)):1002-1008 doi:10.1080/09638288.2016.1177124.

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.

Schesny M, Joncourt F, Tarnutzer AA

Cerebellum (London, England) 2019; (18(3)):649-653 doi:10.1007/s12311-018-0997-3.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

Schwarz N, Bast T, Gaily E, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019; (23(3)):438-447 doi:10.1016/j.ejpn.2019.03.001.

High-throughput screening against protein:protein interaction interfaces reveals anti-cancer therapeutics as potent modulators of the voltage-gated Na+ channel complex.

Wadsworth PA, Folorunso O, Nguyen N, et al.

Scientific reports 2019; (9(1)):16890 doi:10.1038/s41598-019-53110-8.

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Piarroux J, Riant F, Humbertclaude V, et al.

Annals of clinical and translational neurology 2020; (7(4)):565-572 doi:10.1002/acn3.51005.

Video quality using outpatient smartphone videos in epilepsy: Results from the OSmartViE study.

Tatum WO, Hirsch LJ, Gelfand MA, et al.

European journal of neurology 2021; (28(5)):1453-1462 doi:10.1111/ene.14744.

Amelioration of motor and nonmotor symptoms in cortical cerebellar atrophy and multiple system atrophy-cerebellar type by inpatient rehabilitation: a retrospective study.

Sonoda Y, Yamanaka Y, Sawano S, et al.

International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation 2021; (44(2)):104-109 doi:10.1097/MRR.0000000000000455.

Epilepsy and episodic ataxia type 2: family study and review of the literature.

Verriello L, Pauletto G, Nilo A, et al.

Journal of neurology 2021; (268(11)):4296-4302 doi:10.1007/s00415-021-10555-0.

Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial.

Muth C, Teufel J, Schöls L, et al.

Neurology. Clinical practice 2021; (11(4)):e438-e446 doi:10.1212/CPJ.0000000000001017.

The Clinical Value of Patient Home Videos in Movement Disorders.

Billnitzer A, Jankovic J

Tremor and other hyperkinetic movements (New York, N.Y.) 2021; (11()):37 doi:10.5334/tohm.651.

Update on diagnosis and differential diagnosis of vestibular migraine.

Shen Y, Qi X

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(3)):1659-1666 doi:10.1007/s10072-022-05872-9.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

Amadori E, Pellino G, Bansal L, et al.

European journal of medical genetics 2022; (65(4)):104450 doi:10.1016/j.ejmg.2022.104450.

Neuroimaging in cerebellar ataxia in childhood: A review.

Serrallach BL, Orman G, Boltshauser E, et al.

Journal of neuroimaging : official journal of the American Society of Neuroimaging 2022; (32(5)):825-851 doi:10.1111/jon.13017.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Nielsen EN, Ásbjörnsdóttir B, Møller LB, et al.

Cold Spring Harbor molecular case studies 2022; (8(6)) doi:10.1101/mcs.a006236.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

Hassan A

Tremor and other hyperkinetic movements (New York, N.Y.) 2023; (13()):9 doi:10.5334/tohm.747.

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

Wilke C, Pellerin D, Mengel D, et al.

Brain : a journal of neurology 2023; (146(10)):4144-4157 doi:10.1093/brain/awad157.

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.

Bonnet C, Pellerin D, Roth V, et al.

Scientific reports 2023; (13(1)):9737 doi:10.1038/s41598-023-36654-8.

Pearls & Oy-sters: ATX-FGF14 Mimicking Autoimmune Pathology.

Hoshina Y, Wright MA, Warner JEA, et al.

Neurology 2023; (101(14)):e1478-e1482 doi:10.1212/WNL.0000000000207590.

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Iruzubieta P, Pellerin D, Bergareche A, et al.

European journal of neurology 2023; (30(12)):3828-3833 doi:10.1111/ene.16039.

Video Recording Patients for Direct Care Purposes: Systematic Review and Narrative Synthesis of International Empirical Studies and UK Professional Guidance.

Lear R, Ellis S, Ollivierre-Harris T, et al.

Journal of medical Internet research 2023; (25()):e46478 doi:10.2196/46478.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Méreaux JL, Davoine CS, Pellerin D, et al.

EBioMedicine 2024; (99()):104931 doi:10.1016/j.ebiom.2023.104931.

Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).

Foucard C, Belley M, Sangare A, et al.

Neurology. Genetics 2024; (10(1)):e200118 doi:10.1212/NXG.0000000000200118.

Effectiveness and cost of integrated cognitive and balance training for balance and falls in cerebellar ataxia: a blinded two-arm parallel group RCT.

Winser SJ, Chan AYY, Whitney SL, et al.

Frontiers in neurology 2023; (14()):1267099 doi:10.3389/fneur.2023.1267099.

The episodic ataxias.

Graves TD, Snell HD, Khodakhah K, et al.

Handbook of clinical neurology 2024; (203()):123-133 doi:10.1016/B978-0-323-90820-7.00012-4.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Mohren L, Erdlenbruch F, Leitão E, et al.

Nature communications 2024; (15(1)):7665 doi:10.1038/s41467-024-52148-1.

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Abou Chaar W, Eranki AN, Stevens HA, et al.

Annals of neurology 2024; (96(6)):1092-1103 doi:10.1002/ana.27060.

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal.

Mendes Ferreira V, Magriço M, Meira B, Barbosa R

Acta medica portuguesa 2025; (38(6-7)):408-411 doi:10.20344/amp.22232.

In Vivo Expression of an SCA27A-linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons.

Ransdell JL, Brown SP, Xiao M, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.10.25.620253.

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.

How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.

Pinheiro-Barbosa R, Cissé C, Bastos P, et al.

Journal of neurology 2024; (272(1)):45 doi:10.1007/s00415-024-12738-x.

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.

Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.

Hirschfeld AS, Misiorek JO, Dabrowska M, et al.

Journal of applied genetics 2025; (66(4)):895-902 doi:10.1007/s13353-025-00967-3.

FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

Laß J, Thomsen M, Borsche M, et al.

Brain : a journal of neurology 2025; (148(11)):4072-4083 doi:10.1093/brain/awaf183.

Video-Oculography as a Key Diagnostic Tool for SCA27B: A Real-Life Experience.

Coulette S, Lecler A, Le Cossec C, et al.

European journal of neurology 2025; (32(6)):e70228 doi:10.1111/ene.70228.

Spinocerebellar Ataxia Type 27B can be Suspected Based on Clinical Phenotype: The Massachusetts General Hospital Ataxia Center Experience.

Rettenmaier LA, Chen JYH, MacMore J, et al.

Cerebellum (London, England) 2025; (24(5)):133 doi:10.1007/s12311-025-01882-3.

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B.

Gold DR, Bery AK, Moukheiber E, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2026; (46(1)):73-80 doi:10.1097/WNO.0000000000002364.

A journey through genetic movement disorders caused by non-coding repeat expansions.

da Hora RPC, Rossi M, Procaci VR, et al.

Parkinsonism & related disorders 2025; (138()):107967 doi:10.1016/j.parkreldis.2025.107967.

Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias.

Petit E, López Domínguez D, Marelli C, et al.

Neurology 2025; (105(5)):e213980 doi:10.1212/WNL.0000000000213980.

Practice Recommendations for Genetic Testing of Ataxias.

Srinivasan SR, Mook AD, Rochman M, et al.

Annals of clinical and translational neurology 2025; (12(12)):2398-2409 doi:10.1002/acn3.70171.

Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.

Ariello LE, Gold DR, Mu W, et al.

Cerebellum (London, England) 2025; (24(5)):149 doi:10.1007/s12311-025-01906-y.

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.

Iruzubieta P, Pellerin D, Ashton C, et al.

Journal of neurology 2025; (272(9)):636 doi:10.1007/s00415-025-13387-4.

Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience.

Chukwuocha I, Pellerin D, Shanmugarajah P, et al.

Journal of neurology 2025; (272(10)):681 doi:10.1007/s00415-025-13422-4.

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.

van Prooije TH, Pennings M, Maas RPPWM, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(4)):928-936 doi:10.1002/mds.70190.

In Vivo Expression of an SCA27A-Linked FGF14 Mutation Results in Haploinsufficiency and Impaired Firing of Cerebellar Purkinje Neurons.

Ransdell JL, Brown SP, Xiao M, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2026; (46(7)) doi:10.1523/JNEUROSCI.2016-24.2026.

Pearls & Oy-sters: SCA27B as an Elusive Genetic Cause of Episodic Neurologic Symptoms in Later Adulthood.

Yomtoob J, Morse L, Keller Sarmiento IJ, et al.

Neurology 2026; (106(6)):e214754 doi:10.1212/WNL.0000000000214754.

Clinicopathologic Correlates: Progressive Downbeat Nystagmus in Spinocerebellar Ataxia Type 27B.

Hale DE, Mu W, Gold DR

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2026; (46(1)):113-116 doi:10.1097/WNO.0000000000002452.

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.

Mustafa F, Agarwal A, Garg A, et al.

Cerebellum (London, England) 2026; (25(4)).

Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.

Rashedi R, Peemöller F, Erdmann H, et al.

Cerebellum (London, England) 2026; (25(4)).

Cerebellar cognitive affective syndrome (CCAS) and [18F]-FDG PET findings in spinocerebellar ataxia type SCA27B.

Cros L, Pellerin D, Palpacuer T, et al.

Journal of neurology 2026; (273(8)).

Downbeat Nystagmus and Saccadic Oscillations in Spinocerebellar Ataxia Type 27B: A 14-Month Follow-Up Case Report.

Skacik P, Koprusakova MT, Sivak S, et al.

Case reports in neurology 2026; (18(1)):436-441 doi:10.1159/000552966.

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients.

Traschütz A, Hilgers RD, Erdlenbruch F, et al.

EBioMedicine 2026; (131()):106437 doi:10.1016/j.ebiom.2026.106437.

Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14.

Anderson SC, Patel SG, Rodrigues M, et al.

Neurology. Genetics 2026; (12(5)):e200424 doi:10.1212/NXG.0000000000200424.

Vertigo and dizziness syndromes in children and adolescents: Clinical presentation and diagnostic pathway.

Huppert D, Strobl R, Zwergal A, et al.

Developmental medicine and child neurology 2026; doi:10.1111/dmcn.70506.

Taking a clinical history in adolescents and adults presenting with seizures or epilepsy.

Gaitatzis A, Beniczky S, Sander JW, et al.

Epileptic disorders : international epilepsy journal with videotape 2026; doi:10.1002/epd2.70368.