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A difficult case
DCTN1-related Parkinson-plus disorder (Perry syndrome)
  1. Daniel Richardson1,
  2. Meriel M McEntagart2,
  3. Jeremy D Isaacs3
  1. 1St George's, University of London, London, UK
  2. 2Medical Genetics Unit, St George’s Hospital, London, UK
  3. 3Department of Neurology, St George’s Hospital, London, UK
  1. Correspondence to Dr Jeremy D Isaacs, Department of Neurology, St George’s Hospital, Blackshaw Road, London SW17 0QT, UK; jeremy.isaacs{at}nhs.net

Abstract

Dynactin-1 (DCTN1)-related Parkinson-plus disorder (Perry syndrome) is an autosomal dominant neurodegenerative disorder characterised by levodopa-resistant parkinsonism, weight loss, mood change and central hypoventilation. Ventilatory insufficiency is the predominant cause of death. It has been previously described in 87 people from 20 families with a worldwide distribution. It is now recognised as a distinct TDP-43 proteinopathy caused by a pathological mutation in DCTN1. Its rarity and clinical overlap with other neurodegenerative diseases increase the risk of delayed or incorrect diagnosis. Ventilatory support can improve life expectancy but this depends upon its recognition; overall its prognosis remains poor. We report a patient with DCTN1-related Parkinson-plus disorder, in whom genetic confirmation came only after death.

  • CLINICAL NEUROLOGY
  • COGNITION
  • DEMENTIA
  • Parkinson's disease
  • Parkinson-plus disorder

https://doi.org/10.1136/practneurol-2020-002505

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    Footnotes

    • Contributors DR undertook a literature review and write-up of the article under the supervision of JDI. ME provided specialist input and contributed to the write-up of the article. All authors read and approved the final manuscript.

    • 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.

    • Patient consent for publication Consent obtained from next of kin.

    • Data sharing statement All data requests should be submitted to the corresponding author for consideration. Access to anonymised data may be granted following review.

    • Provenance and peer review Not commissioned; externally peer reviewed by David Nicholl, Birmingham, UK.

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