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,task-specific
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, limb
Torticollis
Dystonia, segmental/multifocal
Depression
Dystonia, arm
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n.a.
p.Arg13His: het
Yes
C
DEU
6
30
Yes
Torticollis
Dysarthria
Dystonia (any or unspecified)
Dystonia,task-specific
Dystonia, lower face
Dystonia, craniofacial
Dystonia, hand
Dystonia, laryngeal
Dystonia, arm
Dystonia, generalized
Dystonia, cervical
Dysphonia
Dystonia, oromandibular
Blepharospasm
Dystonia, axial
Dystonia, limb
Dystonia, jaw
Retrocollis
Dystonia, tongue
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Dystonia, hand
Dystonia, arm
p.Arg13His: het