Saunders-Pullman, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
O
n.a.
7
50
No
Dystonia, segmental/multifocal
Dystonia, limb
Dystonia, arm
Dystonia, cervical
Dystonia, leg
Dystonia (any or unspecified)
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Dystonia, arm
p.His23Tyr: het
Yes
O
n.a.
10
53
Yes
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, cervical
Blepharospasm
Dystonia, arm
Dystonia, limb
Dystonia, segmental/multifocal
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Dystonia, arm
Yes
O
n.a.
12
31
Yes
Dystonia, generalized
Blepharospasm
Dystonia, lower face
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, leg
Dystonia, arm
Dystonia, craniofacial
Dystonia, tongue
Dystonia, cervical
Dystonia, limb
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n.a.
p.Phe22Ser: het
Yes
O
n.a.
18
18
No
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, axial
Dystonia, cervical
Dystonia, generalized
Dystonia, leg
Dystonia, limb
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n.a.