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