Brüggemann, 2015: 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.
9
n.a.
Yes
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, cervical
Dystonia, craniofacial
Dystonia, generalized
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n.a.
p.Met1?: het
Yes
♂
n.a.
n.a.
6
44
No
Dystonic tremor
Dystonia, cervical
Dystonia, hand
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, arm
Tremor, limb
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Dystonia, hand
Yes
♂
n.a.
n.a.
15
n.a.
Yes
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, generalized
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Dystonia, leg
Yes
♂
n.a.
n.a.
14
n.a.
Yes
Dystonia, cervical
Dystonia, hand
Dystonia, limb
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
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Dystonia, hand