Zittel, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
C
DEU
n.a.
55
Yes
Dystonia, arm
Torticollis
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, limb
Dystonia,task-specific
Dystonia, segmental/multifocal
Depression
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n.a.
p.Arg13His: het
Yes
♂
C
DEU
6
30
Yes
Dystonia,task-specific
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Retrocollis
Dystonia, oromandibular
Dystonia, generalized
Dystonia, hand
Dysphonia
Dysarthria
Torticollis
Dystonia, arm
Dystonia, craniofacial
Dystonia, axial
Dystonia, tongue
Dystonia, jaw
Dystonia, lower face
Dystonia, laryngeal
Blepharospasm
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Dystonia, hand
Dystonia, arm
p.Arg13His: het