LeDoux, 2012: 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.
6
44
Yes
Dystonia, jaw
Dystonia, arm
Dystonia, leg
Geste antagoniste
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, lower face
Dystonia, tongue
Dystonia, craniofacial
Dystonia, limb
Dystonia, axial
Tremor, limb
Dystonia, laryngeal
Dysphonia
Retrocollis
Dystonia, oromandibular
Dystonia, cervical
Dystonia, generalized
Blepharospasm
Dystonia, foot
Torticollis
Show more (+18)
n.a.
p.Lys16Glu: het
Yes
n.a.
n.a.
12
24
Yes
Dystonia, foot
Dystonia, leg
Tremor, limb
Dystonia, arm
Torticollis
Dystonia (any or unspecified)
Tremor (any or unspecified)
Dystonia, limb
Dystonia,task-specific
Dystonia, segmental/multifocal
Dystonic tremor
Dystonia, hand
Dystonia, cervical
Show more (+10)
n.a.
p.Ser21Cys: het
No
C
POL
20
20
Yes
Tremor (any or unspecified)
Postural tremor
Tremor, limb
Dystonia (any or unspecified)
Dystonia, arm
Dystonic tremor
Dystonia, limb
Tremor, action
Dystonia, focal
Show more (+6)
Dystonia, arm
p.Ile80Val: het
Yes
n.a.
n.a.
40
47
No
Dystonia, lower face
Dysarthria
Dystonia, cervical
Tremor, limb
Dysphonia
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, limb
Tremor (any or unspecified)
Dystonia, laryngeal
Retrocollis
Dystonia, tongue
Dystonia, arm
Dystonic tremor
Blepharospasm
Dystonia (any or unspecified)
Dystonia, jaw
Dystonia, segmental/multifocal
Show more (+15)
n.a.
p.Arg29Gln: het
Yes
n.a.
n.a.
8
24
No
Tremor, limb
Dystonia, laryngeal
Dystonia, limb
Dystonia, lower face
Dystonia, hand
Dystonia, tongue
Dystonia, arm
Tremor (any or unspecified)
Dystonia, craniofacial
Dystonia (any or unspecified)
Dysphonia
Dystonia, jaw
Dystonic tremor
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, oromandibular
Show more (+13)
n.a.
p.Ala7Asp: het
Yes
C
POL
23
50
Yes
Tremor, limb
Tremor, action
Dystonia, segmental/multifocal
Dystonic tremor
Torticollis
Dystonia (any or unspecified)
Dystonia, limb
Tremor (any or unspecified)
Dystonia, arm
Dystonia, hand
Dystonia, leg
Dystonia, cervical
Dystonia,task-specific
Show more (+10)
Dystonia, arm
Dystonia, hand
p.Ile80Val: het
No
n.a.
n.a.
7
26
Yes
Dystonia, leg
Dystonia, arm
Dystonia,task-specific
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, foot
Dystonia, segmental/multifocal
Show more (+5)
Dystonia, arm
Dystonia, hand
p.Ser21Cys: het