Vemula, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
25
n.a.
No
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
c.71+9C>A: het
Yes
C
n.a.
58
n.a.
Yes
Dystonia, laryngeal
Dysphonia
Dystonia, focal
Dystonia (any or unspecified)
Show more (+1)
n.a.
c.71+9C>A: het
Yes
C
n.a.
69
n.a.
No
Dystonia, craniofacial
Blepharospasm
Dystonia (any or unspecified)
Dystonia, focal
Show more (+1)
Blepharospasm
c.71+9C>A: het
Yes
C
n.a.
55
n.a.
No
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
c.71+9C>A: het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia (any or unspecified)
n.a.
c.71+9C>A: het
Yes
C
n.a.
61
n.a.
No
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, jaw
Dystonia, focal
Dystonia (any or unspecified)
Show more (+2)
Dystonia, jaw
c.71+9C>A: het
Yes
C
n.a.
66
n.a.
Yes
Dystonia, focal
Dystonia (any or unspecified)
Dysphonia
Dystonia, laryngeal
Show more (+1)
n.a.
c.71+9C>A: het
Yes
C
n.a.
48
n.a.
No
Dystonia (any or unspecified)
Dystonia, laryngeal
Dysphonia
Dystonia, focal
Show more (+1)
n.a.
c.71+9C>A: het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
n.a.
Dystonia (any or unspecified)
n.a.
c.71+9C>A: het
Yes
C
n.a.
50
n.a.
No
Dystonia, focal
Dystonia, craniofacial
Dystonia (any or unspecified)
Blepharospasm
Show more (+1)
Blepharospasm
c.71+9C>A: het