Paisán-Ruiz, 2009: 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
55
No
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, cervical
Dystonia, segmental/multifocal
Torticollis
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, limb
Cognitive impairment
Dystonia, lower face
Retrocollis
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n.a.
p.Arg29Gln: het
Yes
n.a.
n.a.
14
33
n.a.
Dystonia, generalized
Dystonia, foot
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, leg
Dystonia, arm
Dystonia, cervical
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Dystonia, hand
Dystonia, arm
p.Arg29Gln: het