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