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