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