Gajos, 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
10
53
Yes
Dystonia (any or unspecified)
Dystonia, hand
Dystonia,task-specific
Dystonia, generalized
Tremor, action
Resting tremor
Dystonia, axial
Tremor (any or unspecified)
Dystonia, cervical
Dystonia, craniofacial
Blepharospasm
Postural tremor
Dystonia, laryngeal
Dystonia, arm
Dystonia, leg
Dystonia, limb
Tremor, limb
Dystonia, foot
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n.a.
p.Glu56Gly: het
No
C
POL
20
70
Yes
Dystonia, focal
Dystonia, hand
Dystonia, limb
Dystonia,task-specific
Dystonia (any or unspecified)
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Dystonia, hand
p.Glu56Gly: het