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