Abstract
Background
Early, limb-onset primary torsion dystonia (PTD) is commonly due to a trinucleotide GAG deletion in the TOR1A (DYT1) gene on chromosome 9q34. The majority of carriers of this mutation conform to a characteristic phenotype that is similar in different ethnic populations.
Aim
To describe the clinical features of affected members of a large Irish family with PTD due to the TOR1A deletion.
Methods
Fourteen consenting family members from three generations were examined according to a standardised protocol.
Results
Five affected individuals were identified. Two had a somewhat atypical phenotype with focal and segmental upper-limb dystonia without further progression.
Conclusion
The authors describe the clinical features of PTD due to the TOR1A GAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability.
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O’Riordan, S., Cockburn, D., Barton, D. et al. Primary torsion dystonia due to the TOR1A GAG deletion in an Irish family. Ir J Med Sci 171, 31–32 (2002). https://doi.org/10.1007/BF03168938
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DOI: https://doi.org/10.1007/BF03168938