ArticleJournal of clinical neurology (Seoul, Korea)2013
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.
Article in Journal of clinical neurology (Seoul, Korea), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 33 citations in OpenAlex.
- Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine · 2026Article
- Continuous subcutaneous foscarbidopa/foslevodopa infusion as a therapeutic option in spinocerebellar ataxia type 8 presenting with early-onset parkinsonism.Clinical parkinsonism & related disorders · 2026Article
- Amyotrophic lateral sclerosis -plus patient with an intermediate-lengthFrontiers in genetics · 2026Article
- Hemichorea as the sole clinical manifestation of spinocerebellar ataxia type 8: a case report.BMC neurology · 2025Article
- Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.Journal of neurology · 2025Article
- Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.Frontiers in neurology · 2025Article
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.Cerebellum (London, England) · 2024Article
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.Brain communications · 2024Article
- Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.Science advances · 2023Article
- CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.EMBO molecular medicine · 2021Article
- Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia.Journal of clinical neurology (Seoul, Korea) · 2021Article
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Eye movement changes in autosomal dominant spinocerebellar ataxias.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.Internal medicine (Tokyo, Japan) · 2020Article
- Epilepsy in spinocerebellar ataxia type 8: a case report.Journal of medical case reports · 2019Article
- Repeat-associated non-AUG (RAN) translation: insights from pathology.Laboratory investigation; a journal of technical methods and pathology · 2019Review
- A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.The EMBO journal · 2018Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT: Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8.
conclusionsOur findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.