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