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
Dystonia, leg
Dystonia, cervical
Dystonia, limb
Dystonia, generalized
Dystonia, arm
Dystonia, craniofacial
Dystonia (any or unspecified)
Blepharospasm
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n.a.
p.Asn69del: het
Yes
n.a.
n.a.
20
71
Yes
Dystonia, laryngeal
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, cervical
Dystonia, limb
Dysarthria
Dystonia, tongue
Dystonia, craniofacial
Dystonia, arm
Dysphonia
Dystonia, leg
Myoclonus
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n.a.
p.Leu72Arg: het
No
n.a.
n.a.
20
60
Yes
Dystonia, focal
Dystonia, cervical
Dystonia (any or unspecified)
n.a.
p.Ser6Pro: het
Yes
n.a.
n.a.
12
25
No
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, arm
Dystonia, generalized
Dystonia, limb
Dystonia, laryngeal
Dysphonia
Dystonia, craniofacial
Blepharospasm
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n.a.
Yes
n.a.
n.a.
9
30
No
Dystonia, laryngeal
Dystonia, tongue
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, jaw
Dysphonia
Dystonia, arm
Dystonia, craniofacial
Dysarthria
Dystonia, limb
Dystonia, cervical
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Dystonia, arm
No
n.a.
n.a.
13
17
Yes
Dystonia, tongue
Dystonia, generalized
Dysarthria
Dystonia, arm
Dystonia, jaw
Dystonia, cervical
Dystonia, limb
Dystonia, craniofacial
Dysphonia
Dystonia (any or unspecified)
Myoclonus
Dystonia, laryngeal
Dystonia, leg
Show more (+10)
n.a.
p.Ser6Pro: het