Miyamoto, 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
♀
A
JPN
9
n.a.
Yes
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, hand
Torticollis
Dystonia, cervical
Dystonia, generalized
Dystonia, axial
Dystonia,task-specific
Dystonia, leg
Show more (+6)
Dystonia, hand
Yes
♀
A
JPN
8
n.a.
No
Tremor, limb
Torticollis
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Tremor (any or unspecified)
Myoclonus
Dystonia, hand
Show more (+6)
n.a.
p.Phe58Ser: het
Yes
♂
A
JPN
12
n.a.
Yes
Tremor, limb
Dystonia, cervical
Resting tremor
Dystonia, hand
Tremor (any or unspecified)
Dystonia,task-specific
Dystonia (any or unspecified)
Tremor, action
Torticollis
Dystonia, limb
Show more (+7)
n.a.
p.Pro30His: het