Autosomal Dominant Cerebellar Ataxia Type III (ADCA III) — Disease Characteristics Research Report

Target Disease

• Disease name (legacy clinical label): Autosomal Dominant Cerebellar Ataxia Type III (ADCA type III) (fujioka2013autosomaldominantcerebellar pages 1-2)
• Category: Mendelian (autosomal dominant)
• Modern framing: A historical (pre-molecular) clinicophenotypic grouping within the autosomal-dominant spinocerebellar ataxias (SCAs), enriched for “pure cerebellar” syndromes, now typically discussed as gene-defined SCA subtypes (fujioka2013autosomaldominantcerebellar pages 1-2, pilotto2024hereditaryataxiasfrom pages 3-4)
• MONDO / OMIM / Orphanet / MeSH / ICD identifiers: Not retrievable from the currently available tool-retrieved sources; below, the gene-defined SCA entities are specified instead, and one OMIM example (SCA1) appears in a review but not for ADCA III itself (pilotto2024hereditaryataxiasfrom pages 3-4, warrenburg2005autosomaldominantcerebellar pages 149-152).

1. Disease Information

1.1 What is the disease? (concise overview)

ADCA type III is a subtype of autosomal dominant cerebellar ataxia characterized predominantly by a pure cerebellar syndrome (gait/stance/limb ataxia and dysarthria), with cerebellar oculomotor dysfunction (e.g., nystagmus, impaired smooth pursuit) and occasional additional neurologic signs (e.g., pyramidal signs, tremor, ophthalmoplegia) (fujioka2013autosomaldominantcerebellar pages 1-2).

Direct abstract quote (definition): - “Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor.” (Fujioka et al., Orphanet J Rare Dis, 2013-01, DOI: https://doi.org/10.1186/1750-1172-8-14) (fujioka2013autosomaldominantcerebellar pages 1-2)

1.2 Key identifiers and synonyms

• Synonyms/related terms: “autosomal dominant cerebellar ataxias,” “spinocerebellar ataxias (SCAs)” (fujioka2013autosomaldominantcerebellar pages 1-2)
• Subtypes commonly included in ADCA type III: SCA5, SCA6, SCA11, SCA26, SCA30, SCA31 (fujioka2013autosomaldominantcerebellar pages 1-2, pilotto2024hereditaryataxiasfrom pages 3-4)
• (Some older sources also list additional entities; e.g., a 2011 ADCA type I review lists SCA29 among “pure cerebellar” syndromes, reflecting historical fluidity) (whaley2011autosomaldominantcerebellar pages 1-2).

1.3 Evidence source type

The ADCA type III grouping derives from aggregated disease-level resources and reviews synthesizing multiple families and case series (e.g., Fujioka 2013), while gene-specific entities (SCA31, SCA11) have both patient-level and mechanistic/model evidence (fujioka2013autosomaldominantcerebellar pages 1-2, ishikawa2023spinocerebellarataxiatype pages 1-2, felicio2024spinocerebellarataxiatype pages 1-2).

2. Etiology

2.1 Disease causal factors

ADCA type III is genetically heterogeneous and (in current understanding) is best described as a set of gene-defined SCAs with predominant cerebellar involvement.

• SCA5: pathogenic variants in SPTBN2 (β-III spectrin) (fujioka2013autosomaldominantcerebellar pages 2-3, fujioka2013autosomaldominantcerebellar pages 5-6)
• SCA6: CAG repeat expansion in CACNA1A (P/Q-type calcium channel α1A subunit) (fujioka2013autosomaldominantcerebellar pages 6-7, fujioka2013autosomaldominantcerebellar pages 5-6)
• SCA11: truncating variants in TTBK2 (tau tubulin kinase 2) (felicio2024spinocerebellarataxiatype pages 1-2, felicio2024spinocerebellarataxiatype pages 2-4)
• SCA31: complex pentanucleotide repeat insertion/expansion including pathogenic (TGGAA)n in the BEAN1/TK2 shared intronic region, producing toxic repeat RNAs (ishikawa2023spinocerebellarataxiatype pages 1-2)
• SCA26 & SCA30: mapped loci exist but causal genes not established in the classic ADCA III review (fujioka2013autosomaldominantcerebellar pages 1-2, fujioka2013autosomaldominantcerebellar pages 6-7)

2.2 Risk factors

• Primary risk factor: autosomal dominant inheritance / family history consistent with ADCA/SCAs (fujioka2013autosomaldominantcerebellar pages 1-2).
• Geographic ancestry/founder effects: strong founder effect described for SCA31 in Japan (ishikawa2023spinocerebellarataxiatype pages 1-2).

2.3 Protective factors / gene–environment interactions

No ADCA III–specific protective factors or gene–environment interaction data were identified in the retrieved sources. This is a knowledge gap in the provided evidence corpus.

3. Phenotypes

3.1 Core phenotypes (with suggested HPO terms)

Across ADCA type III, the “pure cerebellar” phenotype typically includes:

1. Gait and limb ataxia (symptom/sign)
2. Evidence: group clinical description (fujioka2013autosomaldominantcerebellar pages 1-2)

3. HPO: Gait ataxia (HP:0002066), Limb ataxia (HP:0002073), Truncal ataxia (HP:0002078)

4. Dysarthria

5. Evidence: typical clinical description for ADCA III and SCA11 (fujioka2013autosomaldominantcerebellar pages 1-2, felicio2024spinocerebellarataxiatype pages 1-2)

6. HPO: Dysarthria (HP:0001260)

7. Cerebellar oculomotor dysfunction (nystagmus, impaired pursuit)

8. Evidence: group description; SCA6 vestibulo-ocular reflex/nystagmus patterns reported (fujioka2013autosomaldominantcerebellar pages 1-2, kim2023clinicalvalueof pages 1-2)

9. HPO: Nystagmus (HP:0000639), Abnormal smooth pursuit (HP:0000641), Downbeat nystagmus (HP:0007665), Gaze-evoked nystagmus (HP:0000668)

10. Cerebellar atrophy on MRI (imaging phenotype)

11. Evidence: diagnostic relevance of cerebellar atrophy on MRI emphasized (fujioka2013autosomaldominantcerebellar pages 1-2, fujioka2013autosomaldominantcerebellar pages 2-3)
12. HPO: Cerebellar atrophy (HP:0001272)

3.2 Subtype-specific phenotypic notes

• SCA6: late-onset; common eye movement abnormalities; occasional extracerebellar features such as pyramidal signs and peripheral neuropathy; depression and fatigue reported (fujioka2013autosomaldominantcerebellar pages 5-6).
• SCA5: eye movement abnormalities; occasional tremor, hyperreflexia, impaired vibration sense; global cerebellar atrophy without brainstem involvement (fujioka2013autosomaldominantcerebellar pages 3-5, fujioka2013autosomaldominantcerebellar pages 5-6).
• SCA11: dysarthria and ocular signs common; pyramidal signs (hyperreflexia) sometimes; MRI shows cerebellar atrophy (felicio2024spinocerebellarataxiatype pages 1-2).
• SCA31: late-onset slowly progressive ataxia; classic Japanese description emphasizes lack of extra-cerebellar signs and cerebellar atrophy without brainstem involvement (ishikawa2023spinocerebellarataxiatype pages 1-2).

3.3 Age of onset, severity, progression

• ADCA type III overall: onset typically in adulthood; minority in adolescence; generally slowly progressive with relatively benign course vs ADCA type I (fujioka2013autosomaldominantcerebellar pages 1-2).
• SCA6: mean onset ~45 years (range 16–72), ~60% after age 50; slow progression (SARA increase 0.35±0.3 over 1 year reported in a cited natural history context within the review) (fujioka2013autosomaldominantcerebellar pages 5-6).
• SCA5: onset 10–68 (mean 33), slowly progressive, duration may exceed 30 years (fujioka2013autosomaldominantcerebellar pages 3-5).
• SCA31: mean onset ~58–60; slow progression (fujioka2013autosomaldominantcerebellar pages 6-7, ishikawa2023spinocerebellarataxiatype pages 1-2).

3.4 Quality of life impact

Falls and dysphagia can reduce quality of life and may shorten lifespan, despite the disorder typically being “not fatal” (fujioka2013autosomaldominantcerebellar pages 1-2, fujioka2013autosomaldominantcerebellar pages 3-5).

4. Genetic / Molecular Information

4.1 Causal genes (HGNC symbols as used in literature)

• SPTBN2 (SCA5) (fujioka2013autosomaldominantcerebellar pages 5-6)
• CACNA1A (SCA6) (fujioka2013autosomaldominantcerebellar pages 6-7)
• TTBK2 (SCA11) (felicio2024spinocerebellarataxiatype pages 1-2)
• BEAN1 / TK2 shared intronic locus (SCA31 repeat insertion; BEAN1 brain-restricted transcription highlighted) (ishikawa2023spinocerebellarataxiatype pages 1-2)

4.2 Pathogenic variant classes

• SCA6 (CACNA1A): CAG repeat expansion; expanded alleles usually 20–29 repeats vs normal 4–18 (fujioka2013autosomaldominantcerebellar pages 6-7).
• SCA11 (TTBK2): mainly small indels causing frameshifts and truncated proteins; examples include c.1329insA and multiple frameshift variants summarized in 2024 review (felicio2024spinocerebellarataxiatype pages 2-4, felicio2024spinocerebellarataxiatype pages 1-2).
• SCA31 (BEAN1/TK2 locus): complex 2.5–3.8 kb insertion containing multiple pentanucleotide motifs; (TGGAA)n isolated as pathogenic component; bidirectionally transcribed repeat RNAs (ishikawa2023spinocerebellarataxiatype pages 1-2).

4.3 Penetrance / anticipation

• SCA6: penetrance “almost 100%” and “anticipation has not been observed” (fujioka2013autosomaldominantcerebellar pages 5-6).
• SCA31: described as likely incomplete penetrance in older review; anticipation absent or mild (fujioka2013autosomaldominantcerebellar pages 6-7).

4.4 Modifier genes / epigenetics

No validated modifier gene or epigenetic associations specific to ADCA III were identified in the retrieved corpus. Natural history/genetic modifier studies exist at the trial-registry level (NCT01060371) but do not specify modifiers in the extracted record (NCT01060371 chunk 1).

5. Environmental Information

No specific environmental, lifestyle, or infectious contributors were identified in the retrieved evidence for ADCA type III; the condition is primarily genetic in current descriptions.

6. Mechanism / Pathophysiology

6.1 Core mechanistic concepts (current understanding)

Recent expert reviews emphasize that hereditary ataxias involve diverse molecular pathways (excitability/calcium homeostasis, proteostasis, mitochondrial dysfunction, inflammation), while ADCA type III subtypes often converge on Purkinje cell dysfunction/degeneration and cerebellar network impairment (pilotto2024hereditaryataxiasfrom pages 3-4, felicio2024spinocerebellarataxiatype pages 1-2).

6.2 Subtype-specific mechanistic chains

SCA6 (CACNA1A polyQ)

Trigger: CAG expansion in CACNA1A → expanded polyglutamine tract in CaV2.1 channel. Proposed chain: altered Ca2+ channel function → reduced Ca2+ influx → eventual neuronal cell death (hypothesis stated in older review) (fujioka2013autosomaldominantcerebellar pages 6-7).

• Suggested GO biological process terms: calcium ion transmembrane transport; synaptic transmission.
• Suggested CL cell types: Purkinje cell (CL:0000121), cerebellar granule cell.

SCA5 (SPTBN2 / β-III spectrin)

Trigger: SPTBN2 coding variants → β-III spectrin dysfunction. Proposed chain: impaired stabilization/trafficking of glutamate transporter EAAT4, impaired axonal transport, reduced Purkinje spontaneous firing and dysregulated glutamatergic neurotransmission → cerebellar motor dysfunction (fujioka2013autosomaldominantcerebellar pages 5-6).

• Suggested GO terms: axon transport, glutamate uptake, regulation of membrane potential.

SCA11 (TTBK2)

Trigger: truncating variants in TTBK2. Unresolved upstream mechanism: haploinsufficiency vs dominant-negative effects; reports of loss of kinase activity and mislocalization; and links to disrupted ciliogenesis (felicio2024spinocerebellarataxiatype pages 1-2). Downstream hypotheses: impaired phosphorylation of neuronal substrates such as tau and TDP-43 and potentially neurotransmitter receptors/transporters → cerebellar neurodegeneration (felicio2024spinocerebellarataxiatype pages 1-2).

• Suggested GO terms: protein phosphorylation, microtubule cytoskeleton organization, cilium assembly.

SCA31 (BEAN1/TK2 locus repeat RNA toxicity)

Trigger: insertion/expansion containing (TGGAA)n → brain-restricted bidirectional transcription produces repeat RNAs. Causal chain evidence: (UGGAA)n repeat RNA forms nuclear RNA foci in Purkinje cell nuclei; Drosophila models show length- and expression-dependent RNA toxicity; RNA-binding proteins TDP-43, FUS, hnRNP A2/B1 mitigate toxicity, suggesting an RNA-chaperone/antitoxic mechanism (ishikawa2023spinocerebellarataxiatype pages 1-2, ishikawa2023spinocerebellarataxiatype pages 2-3).

• Suggested GO terms: RNA binding, RNA processing, nuclear body organization.

6.3 Molecular profiling / omics

No ADCA III subtype-specific transcriptomic/proteomic/metabolomic profiling evidence was retrieved in the current corpus.

7. Anatomical Structures Affected

7.1 Organ/system level

• Primary system: central nervous system (motor coordination networks) (fujioka2013autosomaldominantcerebellar pages 1-2)
• Primary organ/structure: cerebellum; in some subtypes additional involvement of brainstem/pons may be present (e.g., SCA6 MRI atrophy includes pons/red nucleus) (fujioka2013autosomaldominantcerebellar pages 6-7).

7.2 Tissue/cell level

• Dominant involvement of cerebellar Purkinje neurons is repeatedly emphasized across reviews and in subtype mechanisms (pilotto2024hereditaryataxiasfrom pages 3-4, ishikawa2023spinocerebellarataxiatype pages 1-2).

Suggested UBERON terms: cerebellum; cerebellar cortex; pons (for subtypes with brainstem involvement).

8. Temporal Development

8.1 Onset

• Typical: adult onset, often 4th–6th decade depending on subtype (fujioka2013autosomaldominantcerebellar pages 1-2, fujioka2013autosomaldominantcerebellar pages 5-6, ishikawa2023spinocerebellarataxiatype pages 1-2).

8.2 Progression

• Generally slowly progressive; SCA6 noted as slowest progression among compared SCAs in cited European natural history context (fujioka2013autosomaldominantcerebellar pages 5-6).

9. Inheritance and Population

9.1 Inheritance

• Autosomal dominant inheritance (definition of ADCA/SCAs) (kim2023clinicalvalueof pages 1-2).

9.2 Epidemiology (recent 2023–2024 priority)

• ADCA prevalence: ~1–5 per 100,000; European incidence reported as ~3 per 100,000 in one 2024 review (Pilotto et al., Cells, 2024-02, DOI https://doi.org/10.3390/cells13040319) (pilotto2024hereditaryataxiasfrom pages 3-4).
• European SCA prevalence range: narrative review reports global SCA prevalence 0–5.6/100,000 and highlights Harding’s historical ADCA classification, defining type III as “relatively isolated cerebellar ataxia” (Mattei et al., Cerebellum, 2024-09, DOI https://doi.org/10.1007/s12311-023-01600-x) (mattei2024epidemiologyofspinocerebellar pages 1-2).
• SCA6 frequency: EUROSCA European relative frequency ~13% (mattei2024epidemiologyofspinocerebellar pages 4-5, mattei2024epidemiologyofspinocerebellar pages 5-6), consistent with older ADCA III review reporting ~13% of all ADCA cases and prevalence <1/100,000 with substantial geographic variation (fujioka2013autosomaldominantcerebellar pages 2-3).
• SCA31: strong founder effect; essentially absent in other ethnicities; disease frequency assumed ~0.003% in Japanese population calculations in 2023 review (ishikawa2023spinocerebellarataxiatype pages 1-2, ishikawa2023spinocerebellarataxiatype pages 2-3).

10. Diagnostics

10.1 Clinical evaluation

• No fully validated diagnostic criteria exist for ADCA type III; diagnosis relies on clinical/family history, neurologic exam, MRI, exclusion of acquired causes, and definitive genetic testing (fujioka2013autosomaldominantcerebellar pages 1-2).

10.2 Imaging

• MRI cerebellar atrophy is an important argument for neurodegenerative cerebellar ataxia vs secondary causes (fujioka2013autosomaldominantcerebellar pages 2-3).

10.3 Genetic testing approach

A practical stepwise approach is described in Fujioka et al. (2013), including geographically informed prioritization of testing.

• Figure/Table evidence: diagnostic algorithm and ADCA III gene/subtype table extracted from the review (fujioka2013autosomaldominantcerebellar media 92211852, fujioka2013autosomaldominantcerebellar media 9844df72, fujioka2013autosomaldominantcerebellar media 27541419).

10.4 Differential diagnosis

After confirming a “pure cerebellar” syndrome, secondary causes to exclude include drug effects/toxicity, nutritional deficiencies, infections, and structural abnormalities (fujioka2013autosomaldominantcerebellar pages 1-2).

10.5 Emerging diagnostics / biomarkers

• Physiologic biomarkers: A 2023 study found distinct vestibulo-ocular reflex patterns across SCA subtypes, suggesting video head impulse test measures may aid genotype differentiation (Kim et al., Sci Rep, 2023-09, DOI https://doi.org/10.1038/s41598-023-41924-6) (kim2023clinicalvalueof pages 1-2).

11. Outcome / Prognosis

• ADCA type III is generally slowly progressive and “not life-threatening,” but dysphagia and falls can shorten lifespan and reduce quality of life (fujioka2013autosomaldominantcerebellar pages 3-5, fujioka2013autosomaldominantcerebellar pages 1-2).
• In SCA11, lifespan is “thought to be normal,” though many require walking aids later in life (felicio2024spinocerebellarataxiatype pages 1-2).

12. Treatment

12.1 Current standard of care (supportive)

Supportive therapies remain foundational: - Physical therapy, occupational therapy, speech therapy (dysarthria/swallowing) are recommended in modern inherited ataxia management reviews (coarelli2023theinheritedcerebellar pages 12-13, fujioka2013autosomaldominantcerebellar pages 1-2).

12.2 Symptomatic pharmacotherapy (evidence mainly older but still informative)

For SCA6, Fujioka et al. summarize trials suggesting symptomatic benefit: - acetazolamide 250–500 mg/day (temporal but significant improvement) - gabapentin 1200 mg/day (pilot symptom alleviation) - tandospirone 15 mg/day (open-label improvement in ataxia rating and stabilometer measures) (fujioka2013autosomaldominantcerebellar pages 3-5).

12.3 Clinical trials / real-world implementations (ClinicalTrials.gov)

• Dalfampridine (Ampyra) for gait (interventional; crossover RCT):
• NCT01811706; University of Florida; started 2013-02, completed 2013-12; enrolled 20 adults with SCA1/2/3/6.
• Primary outcome: change in Timed 25-Foot Walk (T25FW) after 4 weeks of dalfampridine 10 mg q12h vs placebo.
• Secondary outcomes included SARA and gait biomechanics (stride length).

• URL: https://clinicaltrials.gov/study/NCT01811706 (NCT01811706 chunk 1).

• Natural history and genetic modifiers:

• NCT01060371 (CRC-SCA); observational cohort; planned enrollment 800; includes SCA6 and other dominant SCAs; collects blood for DNA/genetic modifier analysis; primary outcomes include longitudinal progression and modifier associations.
• Estimated primary completion 2024-05-19 in the extracted record.
• URL: https://clinicaltrials.gov/study/NCT01060371 (NCT01060371 chunk 1).

12.4 Emerging disease-modifying directions (2023–2024 expert synthesis)

• 2023–2024 reviews highlight antisense oligonucleotides (ASOs) and gene therapy as key emerging modalities across inherited ataxias (with clinical trial activity in some polyQ SCAs), and emphasize ongoing challenges (delivery, biomarkers, economics) (coarelli2023theinheritedcerebellar pages 12-13).
• A 2024 review frames therapeutic strategies around regulating excitability/calcium homeostasis and targeting proteostasis/mitochondrial dysfunction/inflammation, and references emerging modalities (ASOs, gene therapy) as part of the broader hereditary ataxia pipeline (pilotto2024hereditaryataxiasfrom pages 3-4).

12.5 MAXO suggestions (treatments/actions)

• Physical therapy / physiotherapy (MAXO: physical therapy)
• Occupational therapy
• Speech therapy
• Genetic counseling (These are ontology suggestions; MAXO IDs not available from retrieved sources.)

13. Prevention

Primary prevention of inheritance is not available, but genetic and reproductive options are key.

• Genetic counseling: transmission risk counseling; presymptomatic testing in dominant diseases; prenatal/preimplantation diagnosis are discussed as options in inherited ataxias (coarelli2023theinheritedcerebellar pages 12-13).

14. Other Species / Natural Disease

No naturally occurring non-human disease analogs were identified in the retrieved corpus.

15. Model Organisms

• SCA31 Drosophila models: overexpression of (UGGAA)n repeat RNA causes toxicity and degeneration; co-expression of RNA-binding proteins (e.g., TDP-43) mitigates toxicity, supporting RNA-chaperone concepts (ishikawa2023spinocerebellarataxiatype pages 2-3).
• SCA5 mechanistic model evidence: Drosophila/animal model findings summarized in review include impaired axonal transport and altered Purkinje firing with β-III spectrin loss/mutation (fujioka2013autosomaldominantcerebellar pages 5-6).

Summary Table (subtypes, genes, phenotypes, epidemiology)

Table: This table summarizes Harding ADCA type III and its component SCA subtypes using only the retrieved evidence. It compares genes/loci, mutation classes, onset, phenotypes, imaging, and epidemiology to support disease knowledge-base curation.

Visual Evidence

• Diagnostic algorithm for ADCA type III and ADCA III gene/subtype table (Fujioka et al. 2013) (fujioka2013autosomaldominantcerebellar media 92211852, fujioka2013autosomaldominantcerebellar media 9844df72, fujioka2013autosomaldominantcerebellar media 27541419).

Key Gaps / Limitations in Retrieved Evidence

1. Ontology identifiers (MONDO/OMIM/Orphanet/MeSH/ICD) for ADCA type III and each SCA subtype were not present in the retrieved full texts; thus they cannot be reported with citations from this tool-run (fujioka2013autosomaldominantcerebellar pages 1-2, warrenburg2005autosomaldominantcerebellar pages 149-152, pilotto2024hereditaryataxiasfrom pages 3-4).
2. SCA26/SCA30 modern gene discovery updates (if any) and 2023–2024 subtype-specific clinical trials for SCA5/SCA6/SCA31 were not captured in the accessible retrieved sources; the trial evidence here is primarily from ClinicalTrials.gov records and earlier subtype literature (NCT01811706 chunk 1, NCT01060371 chunk 1).
3. Biomarkers/omics and quantitative natural-history metrics for ADCA III as a group remain sparse in the retrieved evidence beyond subtype-focused imaging/physiology examples (kim2023clinicalvalueof pages 1-2).

References

1. (fujioka2013autosomaldominantcerebellar pages 1-2): Shinsuke Fujioka, Christina Sundal, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type iii: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 8:14-14, Jan 2013. URL: https://doi.org/10.1186/1750-1172-8-14, doi:10.1186/1750-1172-8-14. This article has 50 citations and is from a peer-reviewed journal.

2. (pilotto2024hereditaryataxiasfrom pages 3-4): Federica Pilotto, Andrea Del Bondio, and Hélène Puccio. Hereditary ataxias: from bench to clinic, where do we stand? Cells, 13:319, Feb 2024. URL: https://doi.org/10.3390/cells13040319, doi:10.3390/cells13040319. This article has 23 citations.

3. (warrenburg2005autosomaldominantcerebellar pages 149-152): BPC van de Warrenburg. Autosomal dominant cerebellar ataxias. clinical and genetic studies in dutch patients. Unknown journal, 2005.

4. (whaley2011autosomaldominantcerebellar pages 1-2): Nathaniel Robb Whaley, Shinsuke Fujioka, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type i: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 6:33-33, May 2011. URL: https://doi.org/10.1186/1750-1172-6-33, doi:10.1186/1750-1172-6-33. This article has 120 citations and is from a peer-reviewed journal.

5. (ishikawa2023spinocerebellarataxiatype pages 1-2): Kinya Ishikawa. Spinocerebellar ataxia type 31 (sca31). Journal of Human Genetics, 68:153-156, Nov 2023. URL: https://doi.org/10.1038/s10038-022-01091-4, doi:10.1038/s10038-022-01091-4. This article has 12 citations and is from a peer-reviewed journal.

6. (felicio2024spinocerebellarataxiatype pages 1-2): Daniela Felício and Mariana Santos. Spinocerebellar ataxia type 11 (sca11): ttbk2 variants, functions and associated disease mechanisms. Cerebellum (London, England), 23:678-687, Mar 2024. URL: https://doi.org/10.1007/s12311-023-01540-6, doi:10.1007/s12311-023-01540-6. This article has 4 citations.

7. (fujioka2013autosomaldominantcerebellar pages 2-3): Shinsuke Fujioka, Christina Sundal, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type iii: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 8:14-14, Jan 2013. URL: https://doi.org/10.1186/1750-1172-8-14, doi:10.1186/1750-1172-8-14. This article has 50 citations and is from a peer-reviewed journal.

8. (fujioka2013autosomaldominantcerebellar pages 5-6): Shinsuke Fujioka, Christina Sundal, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type iii: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 8:14-14, Jan 2013. URL: https://doi.org/10.1186/1750-1172-8-14, doi:10.1186/1750-1172-8-14. This article has 50 citations and is from a peer-reviewed journal.

9. (fujioka2013autosomaldominantcerebellar pages 6-7): Shinsuke Fujioka, Christina Sundal, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type iii: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 8:14-14, Jan 2013. URL: https://doi.org/10.1186/1750-1172-8-14, doi:10.1186/1750-1172-8-14. This article has 50 citations and is from a peer-reviewed journal.

10. (felicio2024spinocerebellarataxiatype pages 2-4): Daniela Felício and Mariana Santos. Spinocerebellar ataxia type 11 (sca11): ttbk2 variants, functions and associated disease mechanisms. Cerebellum (London, England), 23:678-687, Mar 2024. URL: https://doi.org/10.1007/s12311-023-01540-6, doi:10.1007/s12311-023-01540-6. This article has 4 citations.

11. (kim2023clinicalvalueof pages 1-2): Jae-Myung Kim, Tai-Seung Nam, Seong-Min Choi, Byeong C. Kim, and Seung-Han Lee. Clinical value of vestibulo-ocular reflex in the differentiation of spinocerebellar ataxias. Scientific Reports, Sep 2023. URL: https://doi.org/10.1038/s41598-023-41924-6, doi:10.1038/s41598-023-41924-6. This article has 15 citations and is from a peer-reviewed journal.

12. (fujioka2013autosomaldominantcerebellar pages 3-5): Shinsuke Fujioka, Christina Sundal, and Zbigniew K Wszolek. Autosomal dominant cerebellar ataxia type iii: a review of the phenotypic and genotypic characteristics. Orphanet Journal of Rare Diseases, 8:14-14, Jan 2013. URL: https://doi.org/10.1186/1750-1172-8-14, doi:10.1186/1750-1172-8-14. This article has 50 citations and is from a peer-reviewed journal.

13. (NCT01060371 chunk 1): Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias. University of Florida. 2010. ClinicalTrials.gov Identifier: NCT01060371

14. (ishikawa2023spinocerebellarataxiatype pages 2-3): Kinya Ishikawa. Spinocerebellar ataxia type 31 (sca31). Journal of Human Genetics, 68:153-156, Nov 2023. URL: https://doi.org/10.1038/s10038-022-01091-4, doi:10.1038/s10038-022-01091-4. This article has 12 citations and is from a peer-reviewed journal.

15. (mattei2024epidemiologyofspinocerebellar pages 1-2): Filippo De Mattei, Fabio Ferrandes, Salvatore Gallone, Antonio Canosa, Andrea Calvo, Adriano Chiò, and Rosario Vasta. Epidemiology of spinocerebellar ataxias in europe. Cerebellum (London, England), 23:1176-1183, Sep 2024. URL: https://doi.org/10.1007/s12311-023-01600-x, doi:10.1007/s12311-023-01600-x. This article has 38 citations.

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17. (mattei2024epidemiologyofspinocerebellar pages 5-6): Filippo De Mattei, Fabio Ferrandes, Salvatore Gallone, Antonio Canosa, Andrea Calvo, Adriano Chiò, and Rosario Vasta. Epidemiology of spinocerebellar ataxias in europe. Cerebellum (London, England), 23:1176-1183, Sep 2024. URL: https://doi.org/10.1007/s12311-023-01600-x, doi:10.1007/s12311-023-01600-x. This article has 38 citations.

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