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