Bressman, 2009: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Lys89Arg: het
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
Yes
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Ser21Thr: het
Yes
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Arg29*: het
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Ala39Thr: het
Yes
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Arg29Pro: het
No
n.a.
C
n.a.
n.a.
n.a.
Yes
Dystonia (any or unspecified)
n.a.
p.Ser21Thr: het
Yes
C
n.a.
3
15
Yes
Torticollis
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Dystonia, laryngeal
Dystonia, foot
Dystonia, hand
Dystonia, cervical
Dystonia, arm
Show more (+6)
n.a.