Research & Literature

Alleviating neurodegeneration in Drosophila models of PolyQ diseases.

Long Z, Tang B, Jiang H

Cerebellum & ataxias 2014; (1()):9 doi:10.1186/2053-8871-1-9.

NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation.

Silva GM, Pedroso JL, Dos Santos DF, et al.

Journal of sleep research 2016; (25(1)):11-5 doi:10.1111/jsr.12330.

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.

Jacobi H, du Montcel ST, Bauer P, et al.

The Lancet. Neurology 2015; (14(11)):1101-8.

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.

Zeng S, Zeng J, He M, et al.

Clinical genetics 2016; (90(2)):141-8 doi:10.1111/cge.12706.

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Svenstrup K, Nielsen TT, Aidt F, et al.

Cerebellum (London, England) 2017; (16(1)):62-67 doi:10.1007/s12311-016-0765-1.

Spinocerebellar ataxia type 10 in Chinese Han.

Wang K, McFarland KN, Liu J, et al.

Neurology. Genetics 2015; (1(3)):e26 doi:10.1212/NXG.0000000000000026.

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

Platonov FA, Tyryshkin K, Tikhonov DG, et al.

Neurogenetics 2016; (17(3)):179-85 doi:10.1007/s10048-016-0481-5.

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.

On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.

Seidel K, Siswanto S, Fredrich M, et al.

Brain pathology (Zurich, Switzerland) 2017; (27(3)):345-355 doi:10.1111/bpa.12412.

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.

RETINAL MANIFESTATIONS OF SPINOCEREBELLAR ATAXIA TYPE 7 IN TWO CONSECUTIVE GENERATIONS.

Yip G, Henao M, Huang LL

Retinal cases & brief reports 2017; (11 Suppl 1()):S86-S89 doi:10.1097/ICB.0000000000000423.

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.

Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy.

Takahashi Y, Kanai M, Taminato T, et al.

Neurology. Genetics 2016; (3(1)):e123 doi:10.1212/NXG.0000000000000123.

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.

The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.

Pang SY, Teo KC, Hsu JS, et al.

Translational neurodegeneration 2017; (6()):27 doi:10.1186/s40035-017-0098-0.

Clinical and genetic analysis of spinocerebellar ataxia type 7 (SCA7) in Zambian families.

Atadzhanov M, Smith DC, Mwaba MH, et al.

Cerebellum & ataxias 2017; (4()):17 doi:10.1186/s40673-017-0075-5.

Autosomal-dominant cerebellar ataxias.

Mundwiler A, Shakkottai VG

Handbook of clinical neurology 2018; (147()):173-185 doi:10.1016/B978-0-444-63233-3.00012-9.

Spinocerebellar Ataxia Type 2.

Scoles DR, Pulst SM

Advances in experimental medicine and biology 2018; (1049()):175-195 doi:10.1007/978-3-319-71779-1_8.

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, et al.

The Journal of molecular diagnostics : JMD 2018; (20(3)):289-297 doi:10.1016/j.jmoldx.2017.12.006.

Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.

Yang JS, Chen PP, Lin MT, et al.

Cerebellum (London, England) 2018; (17(4)):494-498 doi:10.1007/s12311-018-0929-2.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, et al.

The Lancet. Neurology 2018; (17(4)):327-334 doi:10.1016/S1474-4422(18)30042-5.

Targeting potassium channels to treat cerebellar ataxia.

Bushart DD, Chopra R, Singh V, et al.

Annals of clinical and translational neurology 2018; (5(3)):297-314 doi:10.1002/acn3.527.

A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging.

Higashi M, Ozaki K, Hattori T, et al.

Journal of the neurological sciences 2018; (387()):187-195 doi:10.1016/j.jns.2018.02.022.

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Chelban V, Wiethoff S, Fabian-Jessing BK, et al.

Movement disorders : official journal of the Movement Disorder Society 2018; (33(7)):1119-1129 doi:10.1002/mds.27334.

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.

Khare S, Galeano K, Zhang Y, et al.

Cerebellum (London, England) 2018; (17(5)):692-697 doi:10.1007/s12311-018-0950-5.

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.

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation.

Wong MMK, Hoekstra SD, Vowles J, et al.

Acta neuropathologica communications 2018; (6(1)):99 doi:10.1186/s40478-018-0600-7.

Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review.

Rossi M, Perez-Lloret S, Cerquetti D, Merello M

Movement disorders clinical practice 2014; (1(3)):154-160 doi:10.1002/mdc3.12042.

De novo convulsive status epilepticus in patients with multiple sclerosis treated with dalfampridine.

Panicucci E, Cohen M, Bourg V, et al.

Multiple sclerosis (Houndmills, Basingstoke, England) 2019; (25(4)):618-621 doi:10.1177/1352458518790379.

Comparable progression of spinocerebellar ataxias between Caucasians and Chinese.

Lin YC, Lee YC, Hsu TY, et al.

Parkinsonism & related disorders 2019; (62()):156-162 doi:10.1016/j.parkreldis.2018.12.023.

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias.

Buijsen RAM, Toonen LJA, Gardiner SL, van Roon-Mom WMC

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2019; (16(2)):263-286 doi:10.1007/s13311-018-00696-y.

Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene.

Maguire JA, Gagne AL, Gonzalez-Alegre P, et al.

Stem cell research 2019; (34()):101361 doi:10.1016/j.scr.2018.101361.

[Genetics of movement disorders-rare but important].

Klebe S, Timmann D

Der Nervenarzt 2019; (90(2)):197-210 doi:10.1007/s00115-018-0659-1.

Inherited Ataxia and Intrathecal Baclofen for the Treatment of Spasticity and Painful Spasms.

Berntsson SG, Gauffin H, Melberg A, et al.

Stereotactic and functional neurosurgery 2019; (97(1)):18-23 doi:10.1159/000497165.

Spinocerebellar ataxia.

Klockgether T, Mariotti C, Paulson HL

Nature reviews. Disease primers 2019; (5(1)):24 doi:10.1038/s41572-019-0074-3.

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.

Chen J, Sun Y, Liu X, Li J

BMC neurology 2019; (19(1)):157 doi:10.1186/s12883-019-1381-8.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Accogli A, St-Onge J, Addour-Boudrahem N, et al.

Journal of child neurology 2020; (35(2)):106-110 doi:10.1177/0883073819878917.

Pathogenesis of SCA3 and implications for other polyglutamine diseases.

McLoughlin HS, Moore LR, Paulson HL

Neurobiology of disease 2020; (134()):104635 doi:10.1016/j.nbd.2019.104635.

Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis.

Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T

Journal of neurology 2021; (268(8)):2749-2756 doi:10.1007/s00415-020-09815-2.

Pathogenic mechanisms underlying spinocerebellar ataxia type 1.

Tejwani L, Lim J

Cellular and molecular life sciences : CMLS 2020; (77(20)):4015-4029 doi:10.1007/s00018-020-03520-z.

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6.

Yang CY, Lai RY, Amokrane N, et al.

Journal of the neurological sciences 2020; (415()):116878 doi:10.1016/j.jns.2020.116878.

The Mechanisms of Nuclear Proteotoxicity in Polyglutamine Spinocerebellar Ataxias.

Lee D, Lee YI, Lee YS, Lee SB

Frontiers in neuroscience 2020; (14()):489 doi:10.3389/fnins.2020.00489.

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort.

Aboud Syriani D, Wong D, Andani S, et al.

Neurology. Genetics 2020; (6(3)):e440 doi:10.1212/NXG.0000000000000440.

Autophagy and Polyglutamine Disease.

Ren H, Hao Z, Wang G

Advances in experimental medicine and biology 2020; (1207()):149-161 doi:10.1007/978-981-15-4272-5_9.

Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.

Du YC, Ma Y, Shao YR, et al.

Cerebellum (London, England) 2020; (19(6)):902-906 doi:10.1007/s12311-020-01167-x.

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.

Novis LE, Spitz M, Jardim M, et al.

Arquivos de neuro-psiquiatria 2020; (78(9)):576-585 doi:10.1590/0004-282X20200017.

Urodynamic efficacy of fesoterodine for the treatment of neurogenic detrusor overactivity and/or low compliance bladder.

Kaga K, Yamanishi T, Kaga M, et al.

International journal of urology : official journal of the Japanese Urological Association 2020; (27(10)):899-904 doi:10.1111/iju.14319.

How specific are non-motor symptoms in the prodrome of Parkinson's disease compared to other movement disorders?

Moscovich M, Heinzel S, Postuma RB, et al.

Parkinsonism & related disorders 2020; (81()):213-218 doi:10.1016/j.parkreldis.2020.10.003.

Spinocerebellar ataxia type 23 (SCA23): a review.

Wu F, Wang X, Li X, et al.

Journal of neurology 2021; (268(12)):4630-4645 doi:10.1007/s00415-020-10297-5.

Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients.

Almaguer-Mederos LE, Pérez-Ávila I, Aguilera-Rodríguez R, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(6)):1372-1380 doi:10.1002/mds.28498.

Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia.

Kim M, Ahn JH, Mun JK, et al.

Journal of clinical neurology (Seoul, Korea) 2021; (17(2)):242-248 doi:10.3988/jcn.2021.17.2.242.

SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.

Niewiadomska-Cimicka A, Doussau F, Perot JB, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2021; (41(22)):4910-4936 doi:10.1523/JNEUROSCI.1882-20.2021.

Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study.

Gong Y, Chen Z, Liu M, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021; (88()):39-46 doi:10.1016/j.jocn.2021.03.004.

Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6.

Jacobi H, Schaprian T, Beyersmann J, et al.

Annals of clinical and translational neurology 2022; (9(3)):286-295 doi:10.1002/acn3.51515.

Rehabilitation in patients with cerebellar ataxias.

Chien HF, Zonta MB, Chen J, et al.

Arquivos de neuro-psiquiatria 2022; (80(3)):306-315 doi:10.1590/0004-282X-ANP-2021-0065.

Translation, Cross-Cultural Adaptation, and Validation to Brazilian Portuguese of the Cerebellar Cognitive Affective/Schmahmann Syndrome Scale.

de Oliveira Scott SS, Pedroso JL, Elias VV, et al.

Cerebellum (London, England) 2023; (22(2)):282-294 doi:10.1007/s12311-022-01391-7.

Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Nath S, Caron NS, May L, et al.

Human genome variation 2022; (9(1)):10 doi:10.1038/s41439-022-00188-8.

Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro.

Alvarenga MP, Siciliani LC, Carvalho RS, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(8)):4997-5005 doi:10.1007/s10072-022-06084-x.

Long-term efficacy of bilateral subthalamic deep brain stimulation in the parkinsonism of SCA 3: A rare case report.

Kuo MC, Tai CH, Tseng SH, Wu RM

European journal of neurology 2022; (29(8)):2544-2547 doi:10.1111/ene.15339.

The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Selvadurai LP, Perlman SL, Wilmot GR, et al.

Cerebellum (London, England) 2023; (22(5)):790-809 doi:10.1007/s12311-022-01424-1.

The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.

Kurosaki T, Ashizawa T

Frontiers in genetics 2022; (13()):936869 doi:10.3389/fgene.2022.936869.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Pellerin D, Danzi MC, Wilke C, et al.

The New England journal of medicine 2023; (388(2)):128-141 doi:10.1056/NEJMoa2207406.

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.

Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, et al.

Neurology. Genetics 2022; (8(6)):e200038 doi:10.1212/NXG.0000000000200038.

Autophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3.

Li J, Peng Y, Tang J, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2023; (43(2)):135-142 doi:10.1111/neup.12860.

An Update on Parkinson's Disease and its Neurodegenerative Counterparts.

Adam H, Gopinath SCB, Arshad MKM, et al.

Current medicinal chemistry 2024; (31(19)):2770-2787 doi:10.2174/0929867330666230403085733.

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.

Casse F, Courtin T, Tesson C, et al.

Movement disorders clinical practice 2023; (10(4)):664-669 doi:10.1002/mdc3.13699.

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.

[Drugs for Neurogenic Bladder Dysfunction].

Sakakibara R, Sawai S, Ogata T

Brain and nerve = Shinkei kenkyu no shinpo 2023; (75(5)):623-629 doi:10.11477/mf.1416202388.

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.

Visual oculomotor abnormalities and vestibulo‑ocular reflex dynamics in polyglutamine spinocerebellar ataxias (Review).

Peng Y, Tu Q, Han Y, et al.

Experimental and therapeutic medicine 2023; (26(1)):358 doi:10.3892/etm.2023.12057.

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Wirth T, Clément G, Delvallée C, et al.

Movement disorders : official journal of the Movement Disorder Society 2023; (38(10)):1950-1956 doi:10.1002/mds.29560.

Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature.

Chen S, Li S, Liu Y, et al.

Frontiers in human neuroscience 2023; (17()):1198309 doi:10.3389/fnhum.2023.1198309.

Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset.

Jacobi H, Schaprian T, Schmitz-Hübsch T, et al.

Annals of clinical and translational neurology 2023; (10(10)):1833-1843 doi:10.1002/acn3.51875.

Writer's Cramps as an Initial Symptom of Spinocerebellar Ataxia Type 14.

Ito M, Sugiyama A, Higuchi Y, et al.

Internal medicine (Tokyo, Japan) 2024; (63(15)):2183-2186 doi:10.2169/internalmedicine.2943-23.

Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.

Lin CR, Kuo SH, Opal P

Current neurology and neuroscience reports 2024; (24(3)):47-54 doi:10.1007/s11910-024-01331-4.

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.

Pellerin D, Heindl F, Wilke C, et al.

EBioMedicine 2024; (102()):105076 doi:10.1016/j.ebiom.2024.105076.

Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.

Clément G, Puisieux S, Pellerin D, et al.

Revue neurologique 2024; (180(5)):410-416 doi:10.1016/j.neurol.2024.03.007.

A combination of chlorzoxazone and folic acid improves recognition memory, anxiety and depression in SCA3-84Q mice.

Marinina KS, Bezprozvanny IB, Egorova PA

Human molecular genetics 2024; (33(16)):1406-1419 doi:10.1093/hmg/ddae079.

SARA captures disparate progression and responsiveness in spinocerebellar ataxias.

Petit E, Schmitz-Hübsch T, Coarelli G, et al.

Journal of neurology 2024; (271(7)):3743-3753 doi:10.1007/s00415-024-12475-1.

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Luo W, Zheng X, Lin Z, Luo W

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):28 doi:10.5334/tohm.889.

Tremor in Spinocerebellar Ataxia: A Scoping Review.

Mukherjee A, Pandey S

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):31 doi:10.5334/tohm.911.

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.

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.

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.

Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.

Koutsis G, Kartanou C, Kontogeorgiou Z, et al.

Journal of the neurological sciences 2024; (467()):123309 doi:10.1016/j.jns.2024.123309.

Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10.

Romero-Molina AO, Ramirez-Garcia G, Chirino-Perez A, et al.

PloS one 2025; (20(3)):e0319505 doi:10.1371/journal.pone.0319505.

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 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.

Ono S, Nakamura M, Ikegami T, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(10)):5417-5421 doi:10.1007/s10072-025-08332-2.

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.

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.

The genetic landscape of spinocerebellar ataxias in Taiwan: Insights from 876 genetically confirmed cases.

Lan SC, Hsiao CT, Jih KY, et al.

Parkinsonism & related disorders 2025; (141()):108075 doi:10.1016/j.parkreldis.2025.108075.

Long-term globus pallidus internus deep brain stimulation in a young patient with spinocerebellar ataxia type 3 initially presenting with levodopa-responsive parkinsonism: a 6-year follow-up case report and literature review.

Zhao J, Ma S, Gao Y, et al.

Therapeutic advances in neurological disorders 2025; (18()):17562864251396525 doi:10.1177/17562864251396525.

A case report of spinocerebellar ataxia with TRPC3 gene mutation and review of literature.

Liu Y, Xie M, Liu F, et al.

Journal of human genetics 2026; doi:10.1038/s10038-025-01449-4.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Saucier J, Al-Qadi M, Allain EP, et al.

Neurology. Genetics 2026; (12(1)):e200345 doi:10.1212/NXG.0000000000200345.

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.