@# DYT1 and DYT6 dystonias are the two most common genetic
primary dystonias. However, they are rare in the
Asian population and have never been reported in
Thailand. DYT6
dystonia typically presents with craniosegmental
dystonia with
speech involvement, whereas DYT1
dystonia typically presents with
lower limb dystonia, which tends to become generalized over
time.
Methods:
Blood samples were collected from 14
patients with
primary dystonia evaluated in five
tertiary hospitals in
Thailand. Genotyping of the TOR1A and THAP1
gene was performed.
Results:
Two
patients were found to have a
missense mutation, p.M143V (c.427A>G), in
exon 3 of the THAP1
gene confirming the
diagnosis of DYT6
dystonia. One
patient was a
woman who developed
blepharospasm and lower cranial
dystonia at the age of 38 years. Her
dystonia spread to the
neck and
arm six months later. The other
patient developed focal
hand dystonia at the age of 34 years. The TOR1A
mutation was not identified in any of these 14
patients.