Irish journal of medical science · 2002
Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.
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O'Riordan S, Cockburn D, Barton D, Lynch T, Hutchinson M
Аннотация
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.
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.