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