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