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, limb
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, foot
Dystonia, hand
Dystonia, leg
Show more (+4)
Dystonia, foot
Dystonia, leg
Yes
O
BRA
7
38
n.a.
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, laryngeal
Dystonia, foot
Dystonia, arm
Dystonia, hand
Dystonia, limb
Dysphonia
Dystonia, axial
Dystonia, cervical
Show more (+8)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
3
17
Yes
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, arm
Dystonia, axial
Dystonia, limb
Dystonia, cervical
Show more (+3)
Dystonia, hand
Dystonia, arm
p.Gln97*: het
Yes
O
BRA
15
30
Yes
Dysphonia
Dystonia, oromandibular
Dystonia, limb
Dystonia, cervical
Dystonia, arm
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, foot
Dystonia, hand
Dystonia, laryngeal
Dystonia, generalized
Show more (+9)
Dystonia, arm
Dystonia, hand
Yes
O
BRA
15
29
No
Dysphonia
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, cervical
Show more (+3)
n.a.
No
O
BRA
14
16
Yes
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, cervical
Dystonia, segmental/multifocal
Show more (+1)
n.a.
p.Thr28Ile: het
Yes
O
BRA
7
25
Yes
Dystonia, cervical
Dystonia, segmental/multifocal
Dysphonia
Dystonia, laryngeal
Dystonia, axial
Dystonia (any or unspecified)
Show more (+3)
n.a.
p.Thr28Ile: het
Yes
O
BRA
9
38
n.a.
Dystonia, foot
Dystonia, limb
Dystonia, arm
Dystonia, axial
Dystonia, cervical
Dystonia, leg
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, generalized
Show more (+6)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
17
36
n.a.
Dystonia, limb
Dystonia, cervical
Dystonia, laryngeal
Dystonia, foot
Dysphonia
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, generalized
Dystonia, axial
Dystonia, leg
Show more (+8)
Dystonia, arm
Dystonia, hand
p.Gln97*: het
Yes
O
BRA
7
19
No
Dystonia, hand
Dystonia, generalized
Dystonia, limb
Dystonia, cervical
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, arm
Dystonia, foot
Show more (+6)
Dystonia, leg
Dystonia, foot
p.Ser21Phe: het