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