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