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Distinctive MRI abnormalities in a man with dentatorubral-pallidoluysian atrophy
  1. Mark Simpson1,
  2. Andrew Smith2,
  3. Hugh Kent1,
  4. Richard Roxburgh1,3
  1. 1Department of Neurology, Auckland City Hospital, Auckland, New Zealand
  2. 2Department of Radiology, Auckland City Hospital, Auckland, New Zealand
  3. 3Centre for Brain Research, University of Auckland, Auckland, New Zealand
  1. Correspondence to Dr Mark Simpson, Department of Neurology, Auckland City Hospital, Private Bag 92-024 Auckland, New Zealand; marks{at}adhb.govt.nz

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Introduction

Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative condition characterised by gradual onset of a variable combination of ataxia, chorea, epilepsy and dementia1 and is due to a (CAG)n expansion in the atrophin-1 gene.2 The pathological abnormalities consist of atrophy of the dentatorubral and pallidoluysian systems.3 Previously reported changes on brain MRI in DRPLA include atrophy of the affected areas and high-signal lesions on T2-weighted imaging in the cerebral white matter, brainstem and thalamus.4 Susceptibility-weighted imaging (SWI) has not been reported in DRPLA.

Case report

Three male subjects over three generations were symptomatic (figure 1).

Figure 1

Family tree showing three generations. Proband is III:3. …

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