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