Dentatorubral pallidolyusian atrophy (DRPLA)

Evidence-based neurology checklist on dentatorubral pallidolyusian atrophy (drpla): Genetics This is caused by mutations in the atrophin 1 gene on chromosome 12p13 It is a CAG repeat expansion disease The transmission is autosomal dominant The onset age is 34-60 years Clinical features Magnetic…

Genetics

  • This is caused by mutations in the atrophin 1 gene on chromosome 12p13
  • It is a CAG repeat expansion disease
  • The transmission is autosomal dominant
  • The onset age is 34-60 years

Clinical features

Magnetic resonance imaging (MRI)

References

  1. Le Bar I, Camuzat A, Castelnovo G, et al. Prevalence of dentatorubral-pallidoluysian atrophy in a large sites of white patients with cerebellar ataxia. Arch Neurol 2003; 60:1097-1099.
  2. Wardle M, Majounie E, Williams NM, Rosser AE, Morris HR, Robertson NP. Dentatorubral pallidoluysian atrophy in South Wales. JNNP 2008; 79:804-807.
  3. Sugiyama A, Sato N, Nakata Y, et al. Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy. J Neurol 2018; 265:322-329. 
  4. Souza PV, Batistella GN, Pinto WB, Oliveira AS. Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. Neurology 2016; 86:e58-e59.
  5. Shioya A, Takuma H, Ohkoshi N, et al. Dentatorubropallidoluysian atrophy with prominent autonomic dysfunction. Intern Med 2023; 62:889-892.
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