Spinocerebellar ataxia type 17 (SCA17; ATX‑TBP; Huntington disease–like 4) — Disease Characteristics Research Report

Executive summary

Spinocerebellar ataxia type 17 (SCA17) is a rare, autosomal dominant neurodegenerative polyglutamine (polyQ) disorder caused by expansion of a mixed CAG/CAA repeat in TBP (TATA‑box binding protein), historically also termed Huntington disease–like 4 (HDL4) because chorea, psychiatric symptoms, and dementia can mimic Huntington disease. (toyoshima2018spinocerebellarataxiatype pages 1-5, nethisinghe2018complexityofthe pages 1-2, rossi2023genotype–phenotypecorrelationsfor pages 1-1)

A major recent development is a 2023 Movement Disorders Society Genetic Mutation Database (MDSGene) systematic review (346 curated patients) proposing revised repeat-size penetrance thresholds—reduced penetrance 41–45 and full penetrance 46–66—to guide diagnosis, counseling, and trial design. (rossi2023genotype–phenotypecorrelationsfor pages 1-1, rossi2023genotype–phenotypecorrelationsfor media 82dfeaa1)

A second 2024 advance is refined interpretation of the repeat tract structure (not only repeat count): a literature-based sequence analysis of reported alleles proposed a 3‑unit organization of the TBP repeat region and argued this structural annotation may help predict intergenerational stability and anticipation risk. (hoffmanzacharska2024thenewface pages 1-2)

1. Disease information

What is the disease?

SCA17 is an autosomal dominant cerebellar ataxia caused by a polyglutamine expansion in TBP, a general transcription initiation factor. A review chapter notes: “In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP)” in SCA17. (toyoshima2018spinocerebellarataxiatype pages 1-5)

Synonyms / alternative names

• Spinocerebellar ataxia type 17 (SCA17) (toyoshima2018spinocerebellarataxiatype pages 1-5)
• ATX‑TBP (rossi2023genotype–phenotypecorrelationsfor pages 1-1)
• Huntington disease–like 4 (HDL4) (toyoshima2018spinocerebellarataxiatype pages 1-5, rossi2023genotype–phenotypecorrelationsfor pages 2-2)

Key identifiers (OMIM, Orphanet, ICD, MeSH, MONDO)

The provided tool-retrieved sources did not include OMIM/Orphanet/ICD/MeSH/MONDO identifiers; therefore these identifiers cannot be asserted from the current evidence set.

Evidence source type

The 2023 MDSGene systematic review is derived from aggregated literature (case reports and family studies) curated into a standardized database. (rossi2023genotype–phenotypecorrelationsfor pages 1-1, rossi2023genotype–phenotypecorrelationsfor pages 8-8)

2. Etiology

Disease causal factors

Primary cause (genetic): germline expansion of a mixed CAG/CAA repeat in exon 3 of TBP, encoding an expanded polyglutamine tract. (nethisinghe2018complexityofthe pages 1-2, rossi2023genotype–phenotypecorrelationsfor pages 1-1)

Mechanistic framing: SCA17 is one of the “triplet repeat diseases,” where repeat tracts can form non‑B DNA structures that predispose to instability during replication/repair, promoting dynamic mutation. (hoffmanzacharska2024thenewface pages 1-2)

Risk factors

• Repeat size / penetrance: The 2023 MDSGene review reports that “97.7% of the patients had ≥41 repeats” and proposes a reduced‑penetrance “gray zone” between 41 and 45 repeats, with full penetrance above this range. (rossi2023genotype–phenotypecorrelationsfor pages 1-1)
• Family history: SCA17 is typically autosomal dominant; however, reduced penetrance and variable expressivity can yield asymptomatic carriers in families. (nethisinghe2018complexityofthe pages 1-2)

Protective factors

No protective genetic variants or modifiable protective environmental factors were identified in the provided evidence set.

Gene–environment interactions

The UK cohort paper reports marked intrafamilial variability (including discordant monozygotic twins) and suggests environmental/epigenetic influences may contribute, but does not specify a particular exposure. (nethisinghe2018complexityofthe pages 1-2)

3. Phenotypes

Core phenotype spectrum

A 2018 review chapter reports broad clinical heterogeneity and provides approximate frequencies for selected manifestations: * Cerebellar ataxia: “most of the patients (>90%) developed ataxia.” (toyoshima2018spinocerebellarataxiatype pages 1-5) * Dementia/cognitive decline: “dementia is the second most common symptom (73%).” (toyoshima2018spinocerebellarataxiatype pages 1-5) * Seizures/epilepsy: ~20% (toyoshima2018spinocerebellarataxiatype pages 1-5) * Autonomic dysfunction: ~9% (toyoshima2018spinocerebellarataxiatype pages 1-5) * Apraxia: ~7% (toyoshima2018spinocerebellarataxiatype pages 1-5) * Peripheral nerve involvement: ~3% (toyoshima2018spinocerebellarataxiatype pages 1-5)

The 2023 MDSGene review emphasizes non‑ataxic presentations also occur, including “pure parkinsonism or chorea associated with dementia,” and notes psychiatric/cognitive manifestations such as psychosis and depression. (rossi2023genotype–phenotypecorrelationsfor pages 2-2)

Phenotype characteristics

• Age of onset: very broad; review sources report onset approximately from childhood to later adulthood (e.g., 3–60 years). (toyoshima2018spinocerebellarataxiatype pages 1-5, grassini2024cognitivedysfunctionsocial pages 1-3)
• Progression: progressive neurodegenerative disorder with variable severity across individuals and within families. (nethisinghe2018complexityofthe pages 1-2)

Genotype–phenotype notes (clinical)

• The MDSGene systematic review proposes that pure parkinsonism is more common among carriers with 41–45 repeats, whereas carriers with ≥46 repeats more often show a complex mixed movement disorder phenotype. (rossi2023genotype–phenotypecorrelationsfor pages 1-1)
• A review chapter reports that among repeat sizes 43–50, “more than 75%” had intellectual deterioration; among repeat sizes 50–60, 75% had reduced intellectual function. (toyoshima2018spinocerebellarataxiatype pages 1-5)

Quality of life impact

A 2024 case report noted preserved basic activities of daily living but impaired instrumental ADLs (IADL 4/8) in one patient, consistent with functional impact from cognitive/social-cognition deficits. (grassini2024cognitivedysfunctionsocial pages 1-3)

Suggested HPO terms (non-exhaustive; evidence-backed)

• Cerebellar ataxia — HP:0001251 (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Gait ataxia — HP:0002066 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)
• Dysarthria — HP:0001260 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)
• Abnormality of eye movement — HP:0000496 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)
• Dementia — HP:0000726 (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Cognitive impairment — HP:0100543 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)
• Parkinsonism — HP:0001300 (rossi2023genotype–phenotypecorrelationsfor pages 1-1)
• Chorea — HP:0002072 (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Seizure — HP:0001250 (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Depression — HP:0000716 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)
• Psychosis — HP:0000709 (rossi2023genotype–phenotypecorrelationsfor pages 2-2)

4. Genetic / molecular information

Causal gene

• TBP (TATA‑box binding protein). (toyoshima2018spinocerebellarataxiatype pages 1-5, nethisinghe2018complexityofthe pages 1-2)

Pathogenic variant class

• Repeat expansion of a mixed CAG/CAA tract (polyQ‑encoding) in TBP. (rossi2023genotype–phenotypecorrelationsfor pages 1-1, hoffmanzacharska2024thenewface pages 1-2)

Repeat length interpretation (current practice trend)

The 2023 MDSGene systematic review provides a data-driven reinterpretation of TBP repeat cutoffs: * “97.7% of the patients had ≥41 repeats” (curated cases) (rossi2023genotype–phenotypecorrelationsfor pages 1-1) * Proposed thresholds: reduced penetrance 41–45 and full penetrance 46–66 (rossi2023genotype–phenotypecorrelationsfor pages 1-1) * Comparative cohorts: “99.6% of patients with PD and 99.9% of healthy individuals had ≤42 repeats” (rossi2023genotype–phenotypecorrelationsfor pages 1-1)

A visual summary of clinical features across revised repeat groups (Figure 3) and an accompanying table of features by repeat group (Table 2) were extracted from the MDSGene review. (rossi2023genotype–phenotypecorrelationsfor media 82dfeaa1, rossi2023genotype–phenotypecorrelationsfor media 1829bb84)

Repeat structure (2024 development)

A 2024 IJMS paper argues that repeat composition and motif organization should be annotated to improve prognostic counseling, stating that “detailed analysis of the CAG/CAA repeat structure, not just the number of repeats, in TBP-expanded alleles should be performed” due to potential relevance for stability/anticipation. (hoffmanzacharska2024thenewface pages 1-2)

Modifier genes / digenic inheritance

A 2024 SCA17 case report summarizes literature suggesting intermediate TBP expansions may require co-occurring STUB1 variants to cause disease (digenic TBP/STUB1), implying modifier or digenic mechanisms in borderline repeat-size cases. (grassini2024cognitivedysfunctionsocial pages 1-3)

Suggested ontology terms

• Gene: TBP (HGNC:11588; not provided in evidence set—listed here as a standard identifier and should be verified against HGNC directly)
• Disease mechanism: trinucleotide repeat expansion (sequence feature)

5. Environmental information

No specific environmental toxins, lifestyle factors, or infectious triggers for SCA17 were identified in the provided evidence set; SCA17 is primarily genetic. (toyoshima2018spinocerebellarataxiatype pages 1-5, rossi2023genotype–phenotypecorrelationsfor pages 1-1)

6. Mechanism / pathophysiology

Current mechanistic concepts (disease-relevant)

• Dynamic mutation biology: repeat tracts can form “unusual DNA structures” and undergo instability, motivating the concept of repeat unit organization and its relationship to transmission stability. (hoffmanzacharska2024thenewface pages 1-2)
• PolyQ protein toxicity: SCA17 belongs to the polyQ disorders in which expanded glutamine tracts alter protein behavior, with downstream processes in polyQ SCAs broadly including transcriptional dysregulation, impaired protein quality control, mitochondrial dysfunction, and neuronal dysfunction (discussed across SCA reviews). (cui2024spinocerebellarataxiasfrom pages 1-2)

Causal chain (high-level)

TBP mixed CAG/CAA repeat expansion → expanded polyglutamine tract in TBP → altered TBP conformational/interaction behavior and/or nuclear localization/aggregation (supported in model systems) → neuronal dysfunction and neurodegeneration affecting cerebellar and extra-cerebellar circuits → progressive ataxia with cognitive/psychiatric and movement-disorder manifestations. (patel2023phenotypicdefectsfrom pages 1-2, cui2024spinocerebellarataxiasfrom pages 1-2)

Suggested GO biological process terms (candidates; align to evidence themes)

• Transcription initiation from RNA polymerase II promoter — GO:0006367 (TBP function; mechanistic relevance implied) (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Protein aggregation — GO:0070848 (model evidence of aggregation-prone TBP) (patel2023phenotypicdefectsfrom pages 1-2)
• Neuron death / neurodegeneration — GO:1901214 (disease-level phenotype; implied) (cui2024spinocerebellarataxiasfrom pages 1-2)

Suggested Cell Ontology (CL) terms (candidates)

Primary vulnerable cells are not explicitly enumerated in the provided excerpts; broadly, cerebellar neuronal populations are implicated. Candidate CL terms that should be verified/expanded with additional neuropathology sources include: * Purkinje cell — CL:0000121

7. Anatomical structures affected

Organ/system level

• Nervous system, with cerebellar and extra-cerebellar involvement (dementia/psychiatric features and chorea/parkinsonism imply wider network degeneration). (toyoshima2018spinocerebellarataxiatype pages 1-5, rossi2023genotype–phenotypecorrelationsfor pages 2-2)

Imaging-supported structures (examples)

A 2024 case report described MRI atrophy of frontal cortex/hippocampus/cerebellum/brainstem and FDG‑PET with striatal hypometabolism and thalamic hypermetabolism (Huntington-like pattern). (grassini2024cognitivedysfunctionsocial pages 1-3)

Suggested UBERON terms (candidates)

• Cerebellum — UBERON:0002037 (toyoshima2018spinocerebellarataxiatype pages 1-5)
• Striatum — UBERON:0002435 (grassini2024cognitivedysfunctionsocial pages 1-3)

8. Temporal development

Onset

Broad onset range is reported (including childhood onset in rare cases with long expansions) with substantial heterogeneity. (toyoshima2018spinocerebellarataxiatype pages 1-5, grassini2024cognitivedysfunctionsocial pages 1-3)

Progression / course

Progressive neurodegenerative course with variable expressivity even within families; anticipation is described as uncommon compared with other polyQ disorders. (nethisinghe2018complexityofthe pages 1-2)

9. Inheritance and population

Inheritance

Autosomal dominant inheritance is repeatedly described, with reduced penetrance for small/intermediate repeat sizes and variable expressivity. (toyoshima2018spinocerebellarataxiatype pages 1-5, rossi2023genotype–phenotypecorrelationsfor pages 1-1)

Epidemiology statistics (limited by available evidence)

• UK cohort allele frequency: fully penetrant pathogenic alleles were “5 in 1,316 chromosomes; 0.38%” in an ataxia cohort (not population prevalence). (nethisinghe2018complexityofthe pages 1-2)
• A review chapter reports that in an HD-phenocopy series, 1.8% (5/285) had TBP expansions. (toyoshima2018spinocerebellarataxiatype pages 1-5)

Robust population prevalence/incidence estimates were not available in the provided evidence set.

10. Diagnostics

Genetic testing

Given the narrow normal–pathogenic repeat gap and phenotypic overlap with Huntington disease-like syndromes, genetic testing of TBP is central. A review chapter states: “If patients with HD-like disease have no mutations in huntingtin, the TBP and C9orf72 genes should be examined.” (toyoshima2018spinocerebellarataxiatype pages 1-5)

Repeat expansion interpretation (clinical counseling)

The 2023 MDSGene review emphasizes that establishing a strict cut-off has been challenging and proposes revised penetrance ranges with a reduced-penetrance “gray zone.” (rossi2023genotype–phenotypecorrelationsfor pages 1-1, rossi2023genotype–phenotypecorrelationsfor pages 2-2)

Imaging/biomarkers (emerging)

A 2024 case report highlights that FDG‑PET patterns may be atypical (Huntington-like striatal hypometabolism and thalamic hypermetabolism) even without marked cerebellar hypometabolism. (grassini2024cognitivedysfunctionsocial pages 1-3)

Differential diagnosis

SCA17 can phenocopy Huntington disease, including chorea/psychiatric/dementia features; the literature explicitly categorizes ATX‑TBP among Huntington disease-like syndromes. (toyoshima2018spinocerebellarataxiatype pages 1-5, rossi2023genotype–phenotypecorrelationsfor pages 2-2)

11. Outcome / prognosis

Detailed survival and quantitative progression rates were not available in the provided evidence set. The disease is progressive with substantial heterogeneity and potential severe early-onset forms in very large expansions. (toyoshima2018spinocerebellarataxiatype pages 1-5, nethisinghe2018complexityofthe pages 1-2)

12. Treatment

Current standard of care

No disease-modifying therapy is established; care is primarily symptomatic and supportive (as described broadly for SCAs). (cui2024spinocerebellarataxiasfrom pages 1-2)

Experimental / clinical trials (registry evidence)

CAD‑1883 (Synchrony‑1) — includes SCA17 explicitly * Trial: “Study of CAD‑1883 for Spinocerebellar Ataxia” * ClinicalTrials.gov ID: NCT04301284 * Phase: 2; randomized, double-blind, placebo-controlled * Status: Withdrawn; “As part of a pipeline reassessment, the Synchrony‑1 trial will not proceed as initially scheduled.” * Eligibility included multiple SCA genotypes and explicitly listed “Spinocerebellar Ataxia Type 17.” * URL: https://clinicaltrials.gov/study/NCT04301284 (registry URL format) * Trial record publication year in excerpt: 2021 (NCT04301284 chunk 1)

Troriluzole — broad hereditary SCA program (SCA17 not listed in excerpted inclusion genotypes) * Trial: “Troriluzole in Adult Participants With Spinocerebellar Ataxia” * ClinicalTrials.gov ID: NCT03701399 * Phase: 3; quadruple-masked randomized trial with open-label extension * Status: Active, not recruiting; Enrollment 299 * Included genotypes (as listed in excerpt): SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10 * URL: https://clinicaltrials.gov/study/NCT03701399 * Trial record publication year in excerpt: 2019 (NCT03701399 chunk 1)

Recent research directions (2023–2024 reviews; not SCA17-specific efficacy)

Recent SCA therapeutic reviews emphasize disease-modifying approaches under development across polyQ SCAs, including gene editing, RNA interference, antisense oligonucleotides (ASOs), and stem cell approaches, while acknowledging delivery and off-target limitations. (cui2024spinocerebellarataxiasfrom pages 6-7, cui2024spinocerebellarataxiasfrom pages 9-10, cui2024spinocerebellarataxiasfrom pages 1-2)

Suggested MAXO terms (candidates)

• Genetic testing — MAXO:0000127 (genetic diagnostic action)
• Physical therapy — MAXO:0000011 (supportive care; common in SCA management though not detailed in provided SCA17-specific excerpts)
• Occupational therapy — MAXO:0000014
• Speech therapy — MAXO:0000121

13. Prevention

No primary prevention is available for germline repeat-expansion disorders. Secondary prevention centers on early detection in at-risk families and genetic counseling. (rossi2023genotype–phenotypecorrelationsfor pages 1-1)

14. Other species / natural disease

No naturally occurring SCA17-like disease in non-human species was identified in the provided evidence set.

15. Model organisms

Drosophila models (SCA17-specific)

A 2023 peer-reviewed study reports new Drosophila models expressing human TBP in wild-type versus SCA17-range polyQ lengths. The abstract states: “Here, we report two new Drosophila models that express human TBP with polyQ repeats in either wild-type or SCA17 patient range.” It further reports that “SCA17 model flies accumulate more aggregation prone TBP, with a greater proportion localizing to the nucleus.” (patel2023phenotypicdefectsfrom pages 1-2)

These models provide a platform for mechanistic dissection (aggregation, nuclear localization, tissue-specific neurodegeneration) and therapeutic target discovery. (patel2023phenotypicdefectsfrom pages 1-2)

Key compiled facts table (evidence-backed)

Table: This table summarizes core disease-definition, genetics, repeat-size interpretation, phenotype, and recent 2023-2024 updates for Spinocerebellar ataxia type 17. It is useful as a compact evidence-backed reference for knowledge-base population and diagnostic interpretation.

Evidence-based figure/table note

An extracted Figure 3 and Table 2 from the 2023 MDSGene systematic review provide a visual schematic of clinical features across revised repeat-size penetrance groups and a tabular summary of clinical features by the 41–45 vs 46–66 repeat categories. (rossi2023genotype–phenotypecorrelationsfor media 82dfeaa1, rossi2023genotype–phenotypecorrelationsfor media 1829bb84)

Gaps / limitations of this report (based on available evidence set)

• OMIM/Orphanet/ICD/MeSH/MONDO identifiers were not retrieved by the current tool context and are therefore not asserted here.
• Robust prevalence/incidence estimates, survival statistics, and formal staging/progression rates were not available in the provided evidence set.
• Detailed biomarker and neuropathology summaries (e.g., Purkinje cell pathology, protein inclusions across brain regions) would require additional full-text sources beyond those retrieved here.

References

1. (toyoshima2018spinocerebellarataxiatype pages 1-5): Yasuko Toyoshima and Hitoshi Takahashi. Spinocerebellar ataxia type 17 (sca17). Advances in experimental medicine and biology, 1049:219-231, Jan 2018. URL: https://doi.org/10.1007/978-3-319-71779-1_10, doi:10.1007/978-3-319-71779-1_10. This article has 50 citations and is from a peer-reviewed journal.

2. (nethisinghe2018complexityofthe pages 1-2): Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, and Paola Giunti. Complexity of the genetics and clinical presentation of spinocerebellar ataxia 17. Frontiers in Cellular Neuroscience, Nov 2018. URL: https://doi.org/10.3389/fncel.2018.00429, doi:10.3389/fncel.2018.00429. This article has 30 citations.

3. (rossi2023genotype–phenotypecorrelationsfor pages 1-1): Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg. Genotype–phenotype correlations for atx‐tbp (sca17): mdsgene systematic review. Movement Disorders, 38:368-377, Nov 2023. URL: https://doi.org/10.1002/mds.29278, doi:10.1002/mds.29278. This article has 22 citations and is from a highest quality peer-reviewed journal.

4. (rossi2023genotype–phenotypecorrelationsfor media 82dfeaa1): Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg. Genotype–phenotype correlations for atx‐tbp (sca17): mdsgene systematic review. Movement Disorders, 38:368-377, Nov 2023. URL: https://doi.org/10.1002/mds.29278, doi:10.1002/mds.29278. This article has 22 citations and is from a highest quality peer-reviewed journal.

5. (hoffmanzacharska2024thenewface pages 1-2): Dorota Hoffman-Zacharska and Anna Sułek. 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. International Journal of Molecular Sciences, 25:8190, Jul 2024. URL: https://doi.org/10.3390/ijms25158190, doi:10.3390/ijms25158190. This article has 1 citations.

6. (rossi2023genotype–phenotypecorrelationsfor pages 2-2): Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg. Genotype–phenotype correlations for atx‐tbp (sca17): mdsgene systematic review. Movement Disorders, 38:368-377, Nov 2023. URL: https://doi.org/10.1002/mds.29278, doi:10.1002/mds.29278. This article has 22 citations and is from a highest quality peer-reviewed journal.

7. (rossi2023genotype–phenotypecorrelationsfor pages 8-8): Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg. Genotype–phenotype correlations for atx‐tbp (sca17): mdsgene systematic review. Movement Disorders, 38:368-377, Nov 2023. URL: https://doi.org/10.1002/mds.29278, doi:10.1002/mds.29278. This article has 22 citations and is from a highest quality peer-reviewed journal.

8. (grassini2024cognitivedysfunctionsocial pages 1-3): Alberto Grassini, Aurora Cermelli, Fausto Roveta, Michela Zotta, Adriana Lesca, Andrea Marcinnò, Fabio Ferrandes, Elisa Piella, Silvia Boschi, Chiara Lombardo, Alfredo Brusco, Salvatore Gallone, Elisa Rubino, Amalia Bruni, and Innocenzo Rainero. Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain fdg-pet presentation in spinocerebellar ataxia 17: a case report. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 45:2877-2880, Mar 2024. URL: https://doi.org/10.1007/s10072-024-07453-4, doi:10.1007/s10072-024-07453-4. This article has 2 citations.

9. (rossi2023genotype–phenotypecorrelationsfor media 1829bb84): Malco Rossi, Moath Hamed, Jon Rodríguez‐Antigüedad, Mario Cornejo‐Olivas, Marianthi Breza, Katja Lohmann, Christine Klein, Rajasumi Rajalingam, Connie Marras, and Bart P. van de Warrenburg. Genotype–phenotype correlations for atx‐tbp (sca17): mdsgene systematic review. Movement Disorders, 38:368-377, Nov 2023. URL: https://doi.org/10.1002/mds.29278, doi:10.1002/mds.29278. This article has 22 citations and is from a highest quality peer-reviewed journal.

10. (cui2024spinocerebellarataxiasfrom pages 1-2): Zi-Ting Cui, Zong-Tao Mao, Rong Yang, Jia-Jia Li, Shan-Shan Jia, Jian-Li Zhao, Fang-Tian Zhong, Peng Yu, and Ming Dong. Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances. Frontiers in Neuroscience, Jun 2024. URL: https://doi.org/10.3389/fnins.2024.1422442, doi:10.3389/fnins.2024.1422442. This article has 32 citations and is from a peer-reviewed journal.

11. (patel2023phenotypicdefectsfrom pages 1-2): Nikhil C. Patel, Nadir Alam, Kozeta Libohova, Ryan O. Dulay, Sokol V. Todi, and A. Sujkowski. Phenotypic defects from the expression of wild-type and pathogenic tata-binding proteins in new drosophila models of spinocerebellar ataxia type 17. G3: Genes, Genomes, Genetics, Aug 2023. URL: https://doi.org/10.1093/g3journal/jkad180, doi:10.1093/g3journal/jkad180. This article has 11 citations and is from a domain leading peer-reviewed journal.

12. (NCT04301284 chunk 1): Study of CAD-1883 for Spinocerebellar Ataxia. Cadent Therapeutics. 2021. ClinicalTrials.gov Identifier: NCT04301284

13. (NCT03701399 chunk 1): Troriluzole in Adult Participants With Spinocerebellar Ataxia. Biohaven Pharmaceuticals, Inc.. 2019. ClinicalTrials.gov Identifier: NCT03701399

14. (cui2024spinocerebellarataxiasfrom pages 6-7): Zi-Ting Cui, Zong-Tao Mao, Rong Yang, Jia-Jia Li, Shan-Shan Jia, Jian-Li Zhao, Fang-Tian Zhong, Peng Yu, and Ming Dong. Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances. Frontiers in Neuroscience, Jun 2024. URL: https://doi.org/10.3389/fnins.2024.1422442, doi:10.3389/fnins.2024.1422442. This article has 32 citations and is from a peer-reviewed journal.

15. (cui2024spinocerebellarataxiasfrom pages 9-10): Zi-Ting Cui, Zong-Tao Mao, Rong Yang, Jia-Jia Li, Shan-Shan Jia, Jian-Li Zhao, Fang-Tian Zhong, Peng Yu, and Ming Dong. Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances. Frontiers in Neuroscience, Jun 2024. URL: https://doi.org/10.3389/fnins.2024.1422442, doi:10.3389/fnins.2024.1422442. This article has 32 citations and is from a peer-reviewed journal.