Clot, 2011: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
11
30
No
Blepharospasm
Dystonia, cervical
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, arm
Dystonia, craniofacial
Dystonia, generalized
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n.a.
p.Asn69del: het
Yes
n.a.
n.a.
20
71
Yes
Dystonia, tongue
Myoclonus
Dystonia, jaw
Dystonia, generalized
Dystonia, cervical
Dysphonia
Dystonia, limb
Dystonia, leg
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, arm
Dysarthria
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n.a.
p.Leu72Arg: het
No
n.a.
n.a.
20
60
Yes
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
n.a.
p.Ser6Pro: het
Yes
n.a.
n.a.
12
25
No
Blepharospasm
Dysphonia
Dystonia, craniofacial
Dystonia, leg
Dystonia, limb
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, arm
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n.a.
Yes
n.a.
n.a.
9
30
No
Dystonia, cervical
Dystonia, arm
Dystonia, limb
Dystonia, laryngeal
Dystonia (any or unspecified)
Dysphonia
Dystonia, segmental/multifocal
Dystonia, jaw
Dysarthria
Dystonia, tongue
Dystonia, craniofacial
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Dystonia, arm
No
n.a.
n.a.
13
17
Yes
Dysphonia
Dystonia, jaw
Dystonia, craniofacial
Dystonia (any or unspecified)
Myoclonus
Dystonia, tongue
Dystonia, leg
Dysarthria
Dystonia, generalized
Dystonia, limb
Dystonia, arm
Dystonia, laryngeal
Dystonia, cervical
Show more (+10)
n.a.
p.Ser6Pro: het