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
Tremor (any or unspecified)
Blepharospasm
Dystonia, cervical
Tremor, limb
Dystonia, axial
Postural tremor
Resting tremor
Dystonia, hand
Dystonia, arm
Dystonia, generalized
Tremor, action
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, foot
Dystonia,task-specific
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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