Lohmann, 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
n.a.
n.a.
11
46
No
Dystonia, generalized
Dystonia, limb
Dystonia, arm
Dystonia, craniofacial
Dystonia, axial
Dysphonia
Dystonia, cervical
Blepharospasm
Dystonia, laryngeal
Dystonia, leg
Dystonia (any or unspecified)
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n.a.
p.Lys16Glu: het
Yes
n.a.
n.a.
8
32
No
Dystonia, generalized
Dystonia, laryngeal
Dystonia, limb
Dystonia, cervical
Dysphonia
Dystonia (any or unspecified)
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n.a.
p.Lys24Glu: het
Yes
n.a.
n.a.
9
33
Yes
Dystonia, arm
Tremor (any or unspecified)
Dystonia (any or unspecified)
Dystonia,task-specific
Dystonia, limb
Dystonia, segmental/multifocal
Dystonic tremor
Tremor, limb
Dystonia, hand
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Dystonia, arm
p.His23Pro: het
Yes
n.a.
n.a.
49
59
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, focal
n.a.
Yes
n.a.
n.a.
41
54
No
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, focal
n.a.
p.Ile80Val: het
Yes
n.a.
n.a.
10
56
Yes
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, limb
Myoclonus
Dysphonia
Dystonia, leg
Dystonia, laryngeal
Dystonia, arm
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, cervical
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Dystonia, leg
Dystonia, arm
p.Pro26Leu: het
Yes
n.a.
n.a.
33
35
No
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, focal
Dystonia,task-specific
Dystonia, hand
Dystonia, limb
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Dystonia, arm
Dystonia, hand
c.-32C>T: het