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