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