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