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