Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers.

Targeting Cognitive Dysfunction in Spinocerebellar Ataxia Type 2 Through Digital Cognitive Training.

Incorporating Patient Perspectives into a Composite Score for Measuring Disease Progression in Spinocerebellar Ataxia (SCA).

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

Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.

Patient-reported Vision Quality-of-life in Parkinsonian Syndromes and Ataxias and Association with Clinical Oculomotor Findings.

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

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

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

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

eVGeMdb: a manually curated database for experimentally validated genetic modifiers of neurodegenerative disorders.

Praja1 E3 ubiquitin ligase and the role it plays in neurodegeneration.

Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series.

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

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias.

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Beyond Parkinson's Disease: A Narrative Review of Neuromelanin MRI in Neurodegenerative Diseases.

H263A and SCAN1/H493R mutant TDP1 block TOP1-induced double-strand break repair during gene transcription in quiescent cells and promote cell death.

Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6.

[Type 28 spinocerebellar ataxia].

Home-based Hybrid Assistive Limb Lumbar Type Telerehabilitation in Spinocerebellar Ataxias: A Nonrandomized Open-label Trial.

From Mutations to Microbes: Investigating the Impact of the Gut Microbiome on Repeat Expansion Disorders.

Enhancing Cerebellar Findings with Positional Manoeuvres.

The cerebellum beyond motor control: cognitive dysfunction in spinocerebellar ataxias.

First Report of Co-Occurring FGF14 (SCA27B) and RFC1 (CANVAS) Repeat Expansions in Two of Three Siblings with Late-Onset Cerebellar Ataxia.

Development and validation of a composite digital balance score for spinocerebellar ataxia: a prospective study.

Elevated Interleukin-8 in Spinocerebellar Ataxia Type 2: A Distinct Peripheral Immune Signature Unrelated To Disease Severity.

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Progress and challenges in sporadic late-onset cerebellar ataxias.

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia.

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

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

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.

Non-coding repeat analyses in patients with Parkinson's disease.

Skeletal Muscle Pathology in Autosomal Recessive Cerebellar Ataxias: Insights from Marinesco-Sjögren Syndrome.

Is Contralateral Suppression of Otoacoustic Emission Observable in Unilateral Cochlear Implant Users With Auditory Neuropathy Spectrum Disorder?

The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).

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

Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.

The human spinothalamic tract: lessons from cordotomy.

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

Respiratory Evaluation in Spinocerebellar ataxia Type 2.

The Cerebellar Neuropsychiatric Rating Scale in the Spinocerebellar Ataxias.

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Selective activation of antioxidant resources and energy deficiency in Marinesco-Sjögren syndrome fibroblasts as an adaptive biological response to Sil1 loss.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Cerebello-Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2.

Spinocerebellar Ataxia Progression Measured with the Patient-Reported Outcome Measure of Ataxia.

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

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.

Movement Disorders in Hereditary Cerebellar Ataxia.

Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review.

Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study.

Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.

Diagnosis of hereditary ataxias: a real-world single center experience.

Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

Trazodone, dibenzoylmethane and tauroursodeoxycholic acid do not prevent motor dysfunction and neurodegeneration in Marinesco-Sjögren syndrome mice.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias.

Prevalence and implications of fragile X premutation screening in Thailand.

Morphological changes of cerebral gray matter in spinocerebellar ataxia type 3 using fractal dimension analysis.

Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.

Repeat expansion disorders.

DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.

Ipsilateral Lower Limb Ataxia in a Patient with Lower Lateral Medullary Infarction: A Motion Analysis and the Possible Mechanism of Body Lateropulsion.

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

Patterns of the Health and Economic Burden of 33 Rare Diseases in China: Nationwide Web-Based Study.

Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.

The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17.

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.

Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.

Significant improvement in paraneoplastic neurological syndromes without identifiable anti-neural antibodies in patients with breast cancer after breast surgery.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia.

Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis.

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

Video-Based Kinematic Analysis of Movement Quality in a Phase 3 Clinical Trial of Troriluzole in Adults with Spinocerebellar Ataxia: A Post Hoc Analysis.

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms.

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.

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

Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.

ITPR1: The missing gene in miosis-ataxia syndrome?

Development and Validation of SCACOMS, a Composite Scale for Assessing Disease Progression and Treatment Effects in Spinocerebellar Ataxia.

I123-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial.

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

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

Molecular Imaging in CANVAS: A Contribution for Differential Diagnosis?

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

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37.

Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.

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

Cerebellar Neurostimulation for Boosting Social and Affective Functions: Implications for the Rehabilitation of Hereditary Ataxia Patients.

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.

Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Deep brain stimulation in Bassen-Kornzweig syndrome: Still effective after 22 years.

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.

A novel mutation in RNF216 gene in an Indian case with Gordon Holmes syndrome.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Amantadine withdrawal in a patient with spinocerebellar ataxia.

Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.

Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.

Memory decline, anxiety and depression in the mouse model of spinocerebellar ataxia type 3.

ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism.

Parainfectious Brown-Séquard syndrome associated with COVID-19.

A Case of Coexistent Spinocerebellar Ataxia Type 2 and Primary Progressive Multiple Sclerosis-Coincidental or Associated?

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant.

Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.

Assessment and tailored physical rehabilitation approaches in persons with cerebellar impairments targeting mobility and walking according to the International Classification of Functioning: a systematic review of case-reports and case-series.

Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation.

A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients.

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia.

A chlorzoxazone-folic acid combination improves cognitive affective decline in SCA2-58Q mice.

Computational identification and molecular dynamics simulation of potential circularRNA derived peptide from gene expression profile of Rheumatoid arthritis, Alzheimer's disease, and Atrial fibrillation.

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report.

Disability in cerebellar ataxia syndromes is linked to cortical degeneration.

Stertor, vestibular ataxia, Horner's syndrome and oral pain in a 6-year-old male intact Weimaraner.

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.

Phenotypic and genetic aspects of hereditary ataxia in dogs.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Clinical availability of eye movement during reading.

Reactive Bergmann glia play a central role in spinocerebellar ataxia inflammation via the JNK pathway.

The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.

The Y831C Mutation of the POLG Gene in Dementia.

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

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

[Non-cerebellar ataxias: posterior column-like ataxia and cerebellar-like ataxia].

Synthesis and cloning of long repeat sequences using single-stranded circular DNA.

[Multiple system atrophy].

The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation.

Electrophysiological and neuropsychological assessment of cognition in spinocerebellar ataxia type 1 patients: a pilot study.

Spinocerebellar ataxia type 31: A clinical and radiological literature review.

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.

Coexistence of spinocerebellar ataxia autosomal recessive type 21 and Ehlers-Danlos syndrome spondylodysplastic type 3 in a patient.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria.

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

Accidental Falls in Patients with Hyperkinetic Movement Disorders: A Systematic Review.

Isolated axial lateropulsion caused by an acute lateral medullary infarction involving the dorsal spinocerebellar tract: A case report.

Pharmacotherapy for the management of the symptoms of Machado-Joseph Disease.

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.

Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.

The inherited cerebellar ataxias: an update.

Pearls & Oy-sters: Deep Phenotyping of Abnormal Eye Movements Advances the Detection of Gerstmann-Sträussler-Scheinker Syndrome.

Pearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome.

CIC missense variants contribute to susceptibility for spina bifida.

The Emerging Key Role of the mGluR1-PKCγ Signaling Pathway in the Pathogenesis of Spinocerebellar Ataxias: A Neurodevelopmental Viewpoint.

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

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.

Potpourri of retinopathies in rare eye disease - A case series.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.

Cerebellar transcranial direct current stimulation modulates timing but not acquisition of conditioned eyeblink responses in SCA3 patients.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.

Sleep disorders among Aboriginal Australians with Machado-Joseph Disease: Quantitative results from a multiple methods study to assess the experience of people living with the disease and their caregivers.

Cerebellar Transcranial Direct Current Stimulation in Spinocerebellar Ataxia Type 3: a Randomized, Double-Blind, Sham-Controlled Trial.

A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions.

Cognitive Dysfunction in Repeat Expansion Diseases: A Review.

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

Ramsay Hunt syndrome: New impressions in the era of molecular genetics.

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

The Clinical Concept of LTDpathy: Is Dysregulated LTD Responsible for Prodromal Cerebellar Symptoms?

A study on non-invasive prenatal screening for the detection of aneuploidy.

Effectiveness of functional trunk training on trunk control and upper limb functions in patients with autosomal recessive hereditary ataxia.

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

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.

Spinocerebellar ataxia type 3: response to levodopa infusion in two cases.

Retrocollis as the cardinal feature in a de novo ITRP1 variant.

Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation.

Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.