Spinocerebellar ataxia type 34 (SCA34)

Evidence-based neurology checklist on spinocerebellar ataxia type 34 (sca34): Genetics This is caused by mutations in the ELOVL4 gene on chromosome 6q ELOVl4 is involved in biosynthesis of very long-chain fatty acids It is also associated with erythrokeratodermia The transmission is autosomal…

Genetics

  • This is caused by mutations in the ELOVL4 gene on chromosome 6q
  • ELOVl4 is involved in biosynthesis of very long-chain fatty acids
  • It is also associated with erythrokeratodermia
  • The transmission is autosomal dominant
  • The onset age is between the second to the sixth decades

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

Synonym

References

  1. Ozaki K, Doi H, Mitsui J, et al. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34. JAMA Neurol 2015; 72:797-805.
  2. Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 2014; 71:470-475. 
  3. Bourassa CV, Raskin S, Serafini S, Teive HA, Dion PA, Rouleau GA. A new ELOVL4 mutation in a case of spinocerebellar ataxia with erythrokeratodermia. JAMA Neurol 2015; 72:942-943.
  4. Bourque PR, Warman-Chardon J, Lelli DA, et al. Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34). Neurol Genet 2018; 4:e263.
  5. Ozaki K, Doi H, Mitsui J, et al. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34. JAMA Neurol 2015; 72:797-805.
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