Golanska, 2015: 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
POL
7
29
Yes
Dystonia, limb
Dystonia, cervical
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, arm
Dystonia,task-specific
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Dystonia, hand
Dystonia, arm
p.Ile80Val: het
No
C
POL
13
n.a.
Yes
Dystonia, focal
Dystonia, arm
Dystonia (any or unspecified)
Tremor, limb
Tremor (any or unspecified)
Dystonia, limb
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Dystonia, arm
p.Ile80Val: het