Research & Literature

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(1)):62-9 doi:10.1002/mds.26382.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.

Teive HA, Moscovich M, Moro A, et al.

Arquivos de neuro-psiquiatria 2015; (73(11)):903-5.

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Evilä A, Arumilli M, Udd B, Hackman P

Neuromuscular disorders : NMD 2016; (26(1)):7-15.

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.

Martinez AR, Moro A, Abrahao A, et al.

Cerebellum (London, England) 2017; (16(1)):253-256 doi:10.1007/s12311-015-0755-8.

A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia.

Bonello M, Ray P

Case reports in neurological medicine 2016; (2016()):8342653 doi:10.1155/2016/8342653.

Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.

Kulkarni SD, Garg M, Sayed R

Indian pediatrics 2016; (53(10)):917-919 doi:10.1007/s13312-016-0960-7.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL, Rivaud-Péchoux S, Charles P, et al.

Scientific reports 2017; (7(1)):15284 doi:10.1038/s41598-017-15127-9.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Chemin J, Siquier-Pernet K, Nicouleau M, et al.

Brain : a journal of neurology 2018; (141(7)):1998-2013 doi:10.1093/brain/awy145.

Spastic ataxias.

Bereznyakova O, Dupré N

Handbook of clinical neurology 2018; (155()):191-203 doi:10.1016/B978-0-444-64189-2.00012-3.

Experiences of patients seeking to participate in variant of uncertain significance reclassification research.

Makhnoon S, Garrett LT, Burke W, et al.

Journal of community genetics 2019; (10(2)):189-196 doi:10.1007/s12687-018-0375-3.

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Reetz K, Dogan I, Hohenfeld C, et al.

Neurology 2018; (91(10)):e917-e930 doi:10.1212/WNL.0000000000006121.

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Krygier M, Kwarciany M, Wasilewska K, et al.

Clinical genetics 2019; (95(3)):415-419 doi:10.1111/cge.13489.

Guidelines on the diagnosis and management of the progressive ataxias.

de Silva R, Greenfield J, Cook A, et al.

Orphanet journal of rare diseases 2019; (14(1)):51 doi:10.1186/s13023-019-1013-9.

15-White Dots APP-Coo-Test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias.

Arcuria G, Marcotulli C, Galasso C, et al.

Journal of neurology 2019; (266(7)):1611-1622 doi:10.1007/s00415-019-09299-9.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, et al.

Neurology 2019; (92(23)):e2679-e2690 doi:10.1212/WNL.0000000000007606.

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S, Kumari R, Suroliya V, et al.

Clinical genetics 2019; (96(6)):566-574 doi:10.1111/cge.13625.

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Vedartham V, Sundaram S, Nair SS, et al.

Ophthalmic genetics 2019; (40(4)):376-379 doi:10.1080/13816810.2019.1666414.

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.

Kvarnung M, Shahsavani M, Taylan F, et al.

Frontiers in genetics 2019; (10()):896 doi:10.3389/fgene.2019.00896.

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.

Mutlu-Albayrak H, Kırat E, Gürbüz G

Neurogenetics 2020; (21(1)):59-66 doi:10.1007/s10048-019-00597-y.

Early Onset Dementia in Ataxia Associated with Ocular Apraxia Type 1 (AOA1).

Aikaterini AI, Papagiannis GI, Konstantinos KA, Yiannopoulou KG

Annals of Indian Academy of Neurology 2020; (23(3)):391-392 doi:10.4103/aian.AIAN_507_19.

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.

Ababneh NA, Ali D, Al-Kurdi B, et al.

PloS one 2020; (15(8)):e0236808 doi:10.1371/journal.pone.0236808.

Psychosocial concerns predict longitudinal trajectories of distress in newly diagnosed cancer patients.

Liu J, Lam KFY, Mahendran R

Singapore medical journal 2022; (63(3)):140-146 doi:10.11622/smedj.2020122.

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.

Psychological Distress among Caregivers of Children with Neurodevelopmental Disorders in Nepal.

Maridal HK, Bjørgaas HM, Hagen K, et al.

International journal of environmental research and public health 2021; (18(5)) doi:10.3390/ijerph18052460.

Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.

Hinshaw JC, Zhao LP, Brimm JE, et al.

Journal of genetic counseling 2021; (30(6)):1591-1597 doi:10.1002/jgc4.1425.

Senataxin: A New Guardian of the Female Germline Important for Delaying Ovarian Aging.

Homer HA

Frontiers in genetics 2021; (12()):647996 doi:10.3389/fgene.2021.647996.

Development and Validation of a Patient-Reported Outcome Measure of Ataxia.

Schmahmann JD, Pierce S, MacMore J, L'Italien GJ

Movement disorders : official journal of the Movement Disorder Society 2021; (36(10)):2367-2377 doi:10.1002/mds.28670.

Very late-onset Friedreich's ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type.

Vidhale TA, Gupta HR, Pj R, Gandhi C

BMJ case reports 2021; (14(7)) doi:10.1136/bcr-2021-242073.

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.

Karlsson WK, Højgaard JLS, Vilhelmsen A, et al.

Cerebellum (London, England) 2022; (21(3)):514-519 doi:10.1007/s12311-021-01308-w.

Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.

Norton ME, Ziffle JV, Lianoglou BR, et al.

American journal of obstetrics and gynecology 2022; (226(1)):128.e1-128.e11 doi:10.1016/j.ajog.2021.07.014.

Diagnostic yield and recognized barriers of an adult neurogenetics clinic.

Peleg A, Sagi-Dain L, Golan D

Journal of community genetics 2021; (12(4)):569-576 doi:10.1007/s12687-021-00547-y.

Occupational Therapy Practice Framework: Domain and Process-Fourth Edition.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association 2020; (74(Supplement_2)):7412410010p1-7412410010p87 doi:10.5014/ajot.2020.74S2001.

Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care.

Chiang J, Chia TH, Yuen J, et al.

JCO precision oncology 2021; (5()):577-584 doi:10.1200/PO.20.00399.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

Çakar A, İnci M, Özdağ Acarlı AN, et al.

Acta neurologica Scandinavica 2022; (145(5)):619-626 doi:10.1111/ane.13592.

Effects of therapeutic exercise on disease severity, balance, and functional Independence among individuals with cerebellar ataxia: A systematic review with meta-analysis.

Winser S, Chan HK, Chen WK, et al.

Physiotherapy theory and practice 2023; (39(7)):1355-1375 doi:10.1080/09593985.2022.2037115.

Cancer patients' understandings of genetic variants of uncertain significance in clinical care.

Amano Y, Raz A, Timmermans S, Shkedi-Rafid S

Journal of community genetics 2022; (13(4)):381-388 doi:10.1007/s12687-022-00594-z.

How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

Kwong A, Ho CYS, Shin VY, et al.

BMC medical genomics 2022; (15(1)):122 doi:10.1186/s12920-022-01270-4.

Association Between Early Speech-Language Pathology Consultation and Pneumonia After Cardiac Surgery.

Kumble S, Strickland A, Cole TK, et al.

American journal of speech-language pathology 2022; (31(5)):2123-2131 doi:10.1044/2022_AJSLP-21-00310.

A Rare Phenotype of Inherited Cerebellar Ataxia.

Raval DM, Rathod VM, Dobariya RK, et al.

Cureus 2022; (14(9)):e28831 doi:10.7759/cureus.28831.

COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency.

Paprocka J, Nowak M, Chuchra P, Śmigiel R

Metabolites 2022; (12(10)) doi:10.3390/metabo12100955.

Effects of transcranial magnetic stimulation on cerebellar ataxia: A systematic review and meta-analysis.

Wang Y, Zhang D, Wang J, et al.

Frontiers in neurology 2023; (14()):1049813 doi:10.3389/fneur.2023.1049813.

Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia.

Major T, Tiet MY, Horvath R, Hensiek AE

Cerebellum (London, England) 2024; (23(2)):455-458 doi:10.1007/s12311-023-01528-2.

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.

Henkel J, Laner A, Locher M, et al.

European journal of human genetics : EJHG 2023; (31(8)):925-930 doi:10.1038/s41431-023-01380-2.

Spinocerebellar ataxia type 11 (SCA11): An update.

Gong Z, Lei L

The European journal of neuroscience 2023; (58(2)):2623-2640 doi:10.1111/ejn.16054.

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Novis LE, Alavi S, Pellerin D, et al.

Parkinsonism & related disorders 2024; (119()):105961 doi:10.1016/j.parkreldis.2023.105961.

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.

Lynch DR, Subramony S, Lin KY, et al.

Pediatric cardiology 2025; (46(2)):379-382 doi:10.1007/s00246-024-03429-5.

Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.

Radhakrishnan DM, Saini A, Fatima S, et al.

Movement disorders clinical practice 2024; (11(4)):438-440 doi:10.1002/mdc3.13950.

Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study.

O'Brien EM, Neiswinter N, Lin KY, et al.

Paediatric anaesthesia 2024; (34(7)):654-661 doi:10.1111/pan.14896.

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics.

Mahale R, Purushottam M, Singh R, et al.

Annals of Indian Academy of Neurology 2024; (27(2)):152-157 doi:10.4103/aian.aian_1001_23.

Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.

Ros-Arlanzón P, Serrano-Serrano B, Aledo-Sala C, et al.

Movement disorders clinical practice 2024; (11(8)):1041-1043 doi:10.1002/mdc3.14128.

Impact of a Multidisciplinary Supportive Care Model Using Distress Screening at an Asian Ambulatory Cancer Center: A Cluster Randomized Controlled Trial.

Ke Y, Neo PSH, Yang GM, et al.

JCO oncology practice 2024; (20(9)):1207-1218 doi:10.1200/OP.23.00505.

Effects of cerebellar repetitive transcranial magnetic stimulation plus physiotherapy in spinocerebellar ataxias - A randomized clinical trial.

Grobe-Einsler M, Bork F, Faikus A, et al.

CNS neuroscience & therapeutics 2024; (30(6)):e14797 doi:10.1111/cns.14797.

An overview of early-onset cerebellar ataxia: a practical guideline.

Hosseinpour S, Bemanalizadeh M, Mohammadi P, et al.

Acta neurologica Belgica 2024; (124(6)):1791-1804 doi:10.1007/s13760-024-02595-w.

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Park J, Bremova-Ertl T, Brands M, et al.

Journal of neurology 2024; (271(10)):6888-6902 doi:10.1007/s00415-024-12664-y.

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Sperelakis-Beedham B, Gitiaux C, Rajaoba M, et al.

European journal of human genetics : EJHG 2025; (33(1)):137-140 doi:10.1038/s41431-024-01728-2.

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia.

Mitrotti P, Vegezzi E, Zangaglia R, et al.

Neurology. Genetics 2024; (10(6)):e200208 doi:10.1212/NXG.0000000000200208.

Reduced cerebellar rhythm by climbing fiber denervation is linked to motor rhythm deficits in mice and ataxia severity in patients.

Lin CC, Fang KC, Balbo I, et al.

Science translational medicine 2025; (17(787)):eadk3922 doi:10.1126/scitranslmed.adk3922.

Mitochondria transplantation transiently rescues cerebellar neurodegeneration improving mitochondrial function and reducing mitophagy in mice.

Li SJ, Zheng QW, Zheng J, et al.

Nature communications 2025; (16(1)):2839 doi:10.1038/s41467-025-58189-4.

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.

Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.

Yunoki T, Matsuoka C, Osakada Y, et al.

Internal medicine (Tokyo, Japan) 2026; (65(1)):173-177 doi:10.2169/internalmedicine.5602-25.

Transcranial alternating current stimulation for treating spinocerebellar ataxia type 3: A randomized controlled trial.

Chen X, Liu X, Lin W, et al.

Cell reports. Medicine 2025; (6(6)):102162 doi:10.1016/j.xcrm.2025.102162.

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Rusecka JM, Kierdaszuk B, Stępniak I, et al.

Journal of applied genetics 2025; doi:10.1007/s13353-025-01001-2.

Genotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.

İpek R, Çavdartepe BE, Bozdoğan ST, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080917.

Interventions Used to Increase Participation Among Older Adults Experiencing Mild Cognitive Decline: A Systematic Review.

Ward E, Wales K, Jolliffe L, et al.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association 2025; (79(6)) doi:10.5014/ajot.2025.051121.

Speech language pathology evaluation is associated with decreased mortality in hip fracture patients with dysphagia.

Vennitti C, Boyapati R, Riggs K, et al.

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie 2025; (35(1)):413 doi:10.1007/s00590-025-04533-9.

Combined effects of mobile health (mHealth) psychoeducation and the Benson relaxation technique on caregiving burden among female caregivers of patients with cancer: a randomized controlled trial.

Roshid MM, Rahman MM, Eity KF, Okamura H

Japanese journal of clinical oncology 2026; doi:10.1093/jjco/hyag026.

Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report.

Motoi H, Watanabe R, Shirai A, et al.

Case reports in neurology 2026; (18(1)):121-127 doi:10.1159/000550495.