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