da Silva-Junior, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
3
9
Yes
Dystonia, foot
Dystonia, arm
Dystonia, limb
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, generalized
Dystonia, hand
Show more (+4)
Dystonia, foot
Dystonia, leg
Yes
O
BRA
7
38
n.a.
Dystonia, leg
Dystonia, axial
Dystonia, foot
Dystonia, limb
Dysphonia
Dystonia, generalized
Dystonia, arm
Dystonia, hand
Dystonia, cervical
Dystonia, laryngeal
Dystonia (any or unspecified)
Show more (+8)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
3
17
Yes
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, limb
Dystonia, axial
Dystonia, hand
Dystonia, cervical
Show more (+3)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
15
30
Yes
Dystonia, limb
Dystonia, generalized
Dystonia (any or unspecified)
Dysphonia
Dystonia, cervical
Dystonia, oromandibular
Dystonia, arm
Dystonia, leg
Dystonia, craniofacial
Dystonia, hand
Dystonia, foot
Dystonia, laryngeal
Show more (+9)
Dystonia, arm
Dystonia, hand
Yes
O
BRA
15
29
No
Dystonia, segmental/multifocal
Dystonia, axial
Dystonia, laryngeal
Dysphonia
Dystonia (any or unspecified)
Dystonia, cervical
Show more (+3)
n.a.
No
O
BRA
14
16
Yes
Dystonia, axial
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, cervical
Show more (+1)
n.a.
p.Thr28Ile: het
Yes
O
BRA
7
25
Yes
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, laryngeal
Dysphonia
Dystonia, cervical
Dystonia, segmental/multifocal
Show more (+3)
n.a.
p.Thr28Ile: het
Yes
O
BRA
9
38
n.a.
Dystonia, leg
Dystonia, arm
Dystonia, axial
Dystonia, hand
Dystonia, limb
Dystonia, foot
Dystonia, generalized
Dystonia, cervical
Dystonia (any or unspecified)
Show more (+6)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
17
36
n.a.
Dysphonia
Dystonia, generalized
Dystonia, arm
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, cervical
Dystonia, laryngeal
Dystonia, hand
Dystonia, axial
Dystonia, limb
Show more (+8)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
7
19
No
Dystonia, limb
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, generalized
Dystonia, foot
Dystonia, leg
Dystonia, arm
Dystonia, cervical
Show more (+6)
Dystonia, foot
Dystonia, leg
p.Ser21Phe: het