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.
BACKGROUND: Early, limb-onset primary torsion dystonia (PTD) is commonly due to a trinucleotideGAG 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 TOR1AGAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability.
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