Nikolov, 2019: 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.
n.a.
51
n.a.
Dystonia, limb
Postural tremor
Dystonia (any or unspecified)
Dystonia,task-specific
Dysarthria
Tremor, action
Tremor (any or unspecified)
Dystonia, mirror
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, arm
Dystonia, hand
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Tremor (any or unspecified)
c.71+9C>A: het