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