ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020
Spinocerebellar ataxia type 48: last but not least.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- Domain-dependent uncoupling of the co-chaperone and E3 ubiquitin ligase CHIP underlies heterogeneity in spinocerebellar ataxia 48.The Journal of biological chemistry · 2026Article
- Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree.Orphanet journal of rare diseases · 2024Article
- Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Cerebellum (London, England) · 2024Review
- More than grey matter: a case of spinocerebellar ataxia type 48.Acta neurologica Belgica · 2024Article
- Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias.Current neurology and neuroscience reports · 2024Review
- HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.Autophagy · 2023Article
- Article
- Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.Brain : a journal of neurology · 2023Article
- Mechanistic Insights and Potential Therapeutic Approaches in PolyQ Diseases via Autophagy.Biomedicines · 2023Review
- Spinocerebellar Ataxia 48 Patient With a Novel De Novo Variant ofJournal of clinical neurology (Seoul, Korea) · 2022Article
- The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.The Journal of biological chemistry · 2022Article
- Chemical Regulation of the Protein Quality Control E3 Ubiquitin Ligase C-Terminus of Hsc70 Interacting Protein (CHIP).Chembiochem : a European journal of chemical biology · 2022Article
- MRI Findings in a Patient with Known SCAR-16 Type STUB1 Associated Cerebellar Ataxia.Journal of the Belgian Society of Radiology · 2022Article
- Review
- A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.Journal of neurology · 2021Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Genetic Dominant Variants inInternational journal of molecular sciences · 2021Article
- Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.Journal of neurology · 2021Article
- Spinocerebellar ataxia type 48: last but not least.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Spinocerebellar ataxia type 48: last but not least.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionBiallelic mutations in STUB1, which encodes the E3 ubiquitin ligase CHIP, were originally described in association with SCAR16, a rare autosomal recessive spinocerebellar ataxia, so far reported in 16 kindreds. In the last 2 years, a new form of spinocerebellar ataxia (SCA48), associated with heterozygous mutations in the same gene, has been described in 12 kindreds with autosomal dominant inheritance.
methodsWe reviewed molecular and clinical findings of both SCAR16 and SCA48 described patients. RESULTS AND
conclusionSCAR16 is characterized by early onset spastic ataxia and a wide disease spectrum, including cognitive dysfunction, hyperkinetic disorders, epilepsy, peripheral neuropathy, and hypogonadism. SCA48 is an adult-onset syndrome characterized by ataxia and cognitive-psychiatric features, variably associated with chorea, parkinsonism, dystonia, and urinary symptoms. SCA48, the last dominant ataxia to be described, could emerge as the most frequent among the SCAs due to conventional mutations. The overlap of several clinical signs between SCAR16 and SCA48 indicates the presence of a continuous clinical spectrum among recessively and dominantly inherited mutations of STUB1. Different kinds of mutations, scattered over the three gene domains, have been found in both disorders. Their pathogenesis and the relationship between SCA48 and SCAR16 remain to be clarified.
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