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Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
  1. D A Grimes1,
  2. C L Barclay1,
  3. J Duff2,
  4. Y Furukawa3,
  5. A E Lang2
  1. 1Parkinson's Disease and Movement Disorders Clinic, The Ottawa Hospital, Ottawa, Canada
  2. 2Department of Medicine, Division of Neurology, The University Health Network – Toronto Western Hospital, Toronto, Canada
  3. 3Movement Disorders Research Laboratory, Centre for Addiction and Mental Health, College Street, Toronto, Canada
  1. Correspondence to:
 Dr D A Grimes, The Ottawa Hospital, Civic Campus, 1053 Carling Avenue, Ottawa, Canada K1Y 4E9;
 dagrimes{at}ottawahospital.on.ca

Abstract

Background: Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described.

Objective: To study a large Canadian family with presumed DRD.

Methods: The clinical features of the family were collected before molecular genetic mutational analysis.

Results: All nine individuals in whom a clinical diagnosis of DRD was definite or probable were heterozygous for a GCH1 gene deletion. However, eight of nine possibly clinically affected members did not carry the GCH1 mutation.

Conclusions: Great care must be taken in diagnosing DRD even in families with the classic phenotype, because of potential phenocopies of the disease.

  • dopa responsive dystonia
  • GTP cyclohydrolase I gene
  • phenocopy

https://doi.org/10.1136/jnnp.72.6.801

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