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, laryngeal
Dystonia, axial
Dysphonia
Dystonia, limb
Dystonia, craniofacial
Dystonia, leg
Dystonia, cervical
Blepharospasm
Dystonia, arm
Dystonia (any or unspecified)
Show more (+8)
n.a.
p.Lys16Glu: het
Yes
n.a.
n.a.
8
32
No
Dysphonia
Dystonia, limb
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, generalized
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n.a.
p.Lys24Glu: het
Yes
n.a.
n.a.
9
33
Yes
Tremor, limb
Dystonia, arm
Tremor (any or unspecified)
Dystonia,task-specific
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, hand
Dystonic tremor
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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, cervical
Dystonia, limb
Dystonia, oromandibular
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, arm
Myoclonus
Dysphonia
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia, leg
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Dystonia, arm
Dystonia, leg
p.Pro26Leu: het
Yes
n.a.
n.a.
33
35
No
Dystonia, arm
Dystonia,task-specific
Dystonia, focal
Dystonia, hand
Dystonia, limb
Dystonia (any or unspecified)
Show more (+3)
Dystonia, arm
Dystonia, hand
c.-32C>T: het