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