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