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