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, leg
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Dystonia, craniofacial
Dystonia, hand
Cognitive impairment
Dystonia, axial
Retrocollis
Dystonia, generalized
Dysphonia
Dyskinesia
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Dystonia, leg
Dystonia, arm
No
♀
A
JPN
n.a.
59
Yes
Dystonia, laryngeal
Dystonia, focal
Dysphonia
Dystonia (any or unspecified)
Show more (+1)
n.a.
No
♀
A
JPN
n.a.
n.a.
Yes
Cognitive impairment
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Dystonia, arm
Dystonia, craniofacial
Dystonia, generalized
Dysphonia
Dystonia, laryngeal
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n.a.
No
♀
A
JPN
n.a.
n.a.
Yes
Dystonia, arm
Dystonia (any or unspecified)
Cognitive impairment
Dystonia, laryngeal
Dystonia, limb
Dystonia, generalized
Dystonia, craniofacial
Dystonia, cervical
Dysphonia
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n.a.
No
♂
A
JPN
19
n.a.
Yes
Dystonia, segmental/multifocal
Tremor, limb
Dystonia (any or unspecified)
Dystonia, arm
Rigidity
Dystonia, limb
Tremor (any or unspecified)
Tremor, action
Show more (+5)
Dystonia, arm
No
♀
A
JPN
n.a.
n.a.
Yes
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dystonia, craniofacial
Cognitive impairment
Dystonia, limb
Dysphonia
Dystonia, laryngeal
Show more (+6)
n.a.