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Published on: September 12, 2020
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
D A Grimes1, C L Barclay, J Duff
1Parkinson's Disease and Movement Disorders Clinic, The Ottawa Hospital, Ottawa, Canada. dagrimes@ottawahospital.on.ca
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.
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