Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
- PMID: 12023430
- PMCID: PMC1737930
- DOI: 10.1136/jnnp.72.6.801
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?
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.
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