Grimaldi, 2018: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
35
n.a.
Yes
Dystonia (any or unspecified)
Dystonia,task-specific
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, arm
Dystonia, tongue
Dystonia, hand
Dystonia, limb
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Dystonia, arm
p.Val2Gly: het