Spinocerebellar ataxia type 48 (SCA48)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 48 (SCA48). This is caused by mutations in the STUB1 gene on chromosome 16. Fully referenced neurology checklist.

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

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Movement disorders

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Cognitive features

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Other clinical features

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain

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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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