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