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