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Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea
  1. Karthik Harisankar,
  2. Jagdeep Singh,
  3. Sahil Mehta,
  4. Vivek Lal
  1. Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Sahil Mehta, Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India; mehtasahilpgi{at}


A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.


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Data availability statement

Data are available on reasonable request.

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  • X @mehtasahilpgi

  • Contributors SM conceived the report, managed the patient, revised the draft and edited the videos. KH wrote the first draft and edited the figures. JS collected all the patient data. VL revised the manuscript. SM is the guarantor.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally reviewed by Zhongbo Chen, London, UK.

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