Miyamoto, 2012: 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
12
34
Yes
Dystonia, cervical
Dystonia, limb
Dystonia, hand
Dystonia, leg
Cognitive impairment
Dystonia, axial
Dystonia, arm
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, generalized
Dyskinesia
Retrocollis
Dysphonia
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Dystonia, leg
Dystonia, arm
No
A
JPN
n.a.
59
Yes
Dysphonia
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, laryngeal
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n.a.
No
A
JPN
n.a.
n.a.
Yes
Dysphonia
Cognitive impairment
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dystonia, cervical
Dystonia, craniofacial
Dystonia, limb
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n.a.
No
A
JPN
n.a.
n.a.
Yes
Dysphonia
Dystonia, laryngeal
Cognitive impairment
Dystonia, generalized
Dystonia, arm
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, limb
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n.a.
No
A
JPN
19
n.a.
Yes
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Tremor (any or unspecified)
Tremor, action
Tremor, limb
Dystonia, limb
Rigidity
Dystonia, arm
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Dystonia, arm
No
A
JPN
n.a.
n.a.
Yes
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, arm
Dystonia, laryngeal
Dystonia, cervical
Dystonia, craniofacial
Dystonia, limb
Cognitive impairment
Dysphonia
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n.a.