ArticleCerebellum (London, England)2019
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Article in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.Cerebellum (London, England) · 2024Pooled it
- Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Trial
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- The molecular landscape of hereditary ataxia: a single-center study.Human genetics · 2025Article
- A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.Genome research · 2025Article
- Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.Annals of clinical and translational neurology · 2025Article
- Diagnosis of hereditary ataxias: a real-world single center experience.Journal of neurology · 2025Article
- Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.Cerebellum (London, England) · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- ANO10 Function in Health and Disease.Cerebellum (London, England) · 2023Review
- Novel mutation in exon11 ofFrontiers in genetics · 2023Article
- Milestones in genetics of cerebellar ataxias.Neurogenetics · 2021Review
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.Acta neuropathologica communications · 2021Review
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.Cerebellum (London, England) · 2021Observational
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.Journal of neurology · 2019Article
- Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.Cerebellum (London, England) · 2019Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing strategies such as next-generation sequencing (NGS) panels and whole genome sequencing (WGS) can be applied to the hereditary cerebellar ataxias (HCAs), but their exact role in the diagnostic pathway is unclear. We aim to determine the yield from genetic testing strategies and the genetic and phenotypic spectrum of HCA in Australia by analysing real-world data. We performed a retrospective review on 87 HCA cases referred to the Neurogenetics Clinic at the Royal North Shore Hospital, Sydney, Australia. Probands underwent triplet repeat expansion testing; those that tested negative had NGS-targeted panels and WGS testing when available. In our sample, 58.6% were male (51/87), with an average age at onset of 37.1 years. Individuals with sequencing variants had a prolonged duration of illness compared to those with a triplet repeat expansion. The detection rate in probands for routine repeat expansion panels was 13.8% (11/80). NGS-targeted panels yielded a further 11 individuals (11/32, 34.4%), with WGS yielding 1 more diagnosis (1/3, 33.3%). NGS panels and WGS improved the overall diagnostic rate to 28.8% (23/80) in 14 known HCA loci. The genetic findings included novel variants in ANO10, CACNA1A, PRKCG and SPG7. Our findings highlight the genetic heterogeneity of HCAs and support the use of NGS approaches for individuals who were negative on repeat expansion testing. In comparison to repeat disorders, individuals with sequencing variants may have a prolonged duration of illness, consistent with slower progression of disease.
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