Autosomal recessive cerebellar ataxia with STUB1 mutations
Evidence-based neurology checklist on autosomal recessive cerebellar ataxia with stub1 mutations: Genetics This is caused by mutations in the STUB1 gene The gene encodes CHIP: this is a ubiquitin ligase The presentation is in adulthood: usually in the mid-20s Clinical features Magnetic resonance…
Genetics
- This is caused by mutations in the STUB1 gene
- The gene encodes CHIP: this is a ubiquitin ligase
- The presentation is in adulthood: usually in the mid-20s
Clinical features
Magnetic resonance imaging (MRI) brain
References
- Depondt C, Donatello S, Simonis N, et al. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 2014; 82:1749-1750.
- Synofzik M, Schüle R, Schulze M, et al. Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis 2014; 9:57.
- Shi CH, Schisler JC, Rubel CE, et al. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum Mol Genet 2014; 23:1013-1024.
Related checklists
- Ataxia telangiectasia (AT)
- Ataxia-telangiectasia like disorder (ATLD)
- COQ8A ataxia
- Cayman ataxia
- Cockayne syndrome
- Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
- Abetalipoproteinaemia
- Gordon Holmes syndrome (GHS)
- Autosomal recessive spinocerebellar ataxias (SCAR)
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Infantile-onset spinocerebellar ataxia (IOSCA)
