Spinocerebellar ataxia type 48 (SCA48)

Evidence-based neurology checklist on spinocerebellar ataxia type 48 (sca48): Genetics This is caused by mutations in the STUB1 gene on chromosome 16 The gene encodes the E3 ubiquitin ligase CHIP The gene is also associated with autosomal recessive spinocerebellar ataxia 16 (SCAR16) The…

Genetics

  • This is caused by mutations in the STUB1 gene on chromosome 16
  • The gene encodes the E3 ubiquitin ligase CHIP
  • The gene is also associated with autosomal recessive spinocerebellar ataxia 16 (SCAR16)
  • The transmission is autosomal dominant

Pathology

Movement disorders

Cognitive features

Other clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

References

  1. Klivényi P, Szpisjak L, Salamon A, et al. Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient. Ideggyogy Sz 2023; 76:63-72. 
  2. De Michele G, Galatolo D, Barghigiani M, et al. Spinocerebellar ataxia type 48: last but not least. Neurol Sci 2020; 41:2423-2432.
  3. Genis D, Ortega-Cubero S, San Nicolás H, et al. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 2018; 91:e1988-e1998.
  4. Palvadeau R, Kaya-Güleç ZE, Şimşir G, et al. Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics 2020; 21:51-58. 
  5. Coarelli G, Coutelier M, Durr A. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments. Lancet Neurol 2023; 22:735-749.
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