Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.
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.


OBJECTIVE
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.


CONCLUSIONS
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.
O'Riordan
S
S
Neurology Department, St Vincent's University Hospital, Dublin, Ireland.
Cockburn
D
D
Barton
D
D
Lynch
T
T
Hutchinson
M
M
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D017353:Gene Deletion; D015750:Genes, gag / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D018832:Molecular Chaperones; D009154:Mutation; D010375:Pedigree
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human