Houlden, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
GBR
8
37
No
Dystonia, limb
Dystonia, generalized
Depression
Dystonia, leg
Dystonia, laryngeal
Dystonia (any or unspecified)
Show more (+3)
n.a.
p.Gln3*: het
Yes
C
GBR
3
30
Yes
Dystonia, hand
Dystonia, laryngeal
Dystonia, generalized
Tremor (any or unspecified)
Dystonia, leg
Dystonia, limb
Tremor, limb
Rigidity
Dystonia (any or unspecified)
Dystonia, foot
Retrocollis
Dystonia, cervical
Postural tremor
Dystonia, arm
Tremor, head
Dystonia,task-specific
Show more (+13)
Dystonia, foot
Yes
JO
n.a.
16
86
No
Dystonia (any or unspecified)
Tremor, head
Dystonia, arm
Tremor, limb
Dystonia, laryngeal
Dystonia, cervical
Tremor (any or unspecified)
Dystonia, limb
Dystonia, segmental/multifocal
Show more (+6)
n.a.
p.Tyr50*: het
Yes
C
GRC
25
38
No
Dystonia, jaw
Dystonia, limb
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, tongue
Dystonia, arm
Dystonia, laryngeal
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Show more (+6)
n.a.
Yes
C
GBR
15
29
Yes
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, laryngeal
Dystonia, cervical
Show more (+3)
Dystonia, arm
Yes
C
FRA
15
45
Yes
Depression
Dystonia, limb
Dystonia, generalized
Dystonia, foot
Dystonia, leg
Dystonia (any or unspecified)
Show more (+3)
Dystonia, foot
p.Tyr8Cys: het
Yes
C
GBR
17
56
Yes
Dystonia, oromandibular
Dystonia, focal
Dystonia, laryngeal
Depression
Dystonia (any or unspecified)
Dystonia, craniofacial
Show more (+3)
n.a.
p.Pro26Arg: comp_het
Yes
C
DEU
20
50
Yes
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, hand
Depression
Dystonia, generalized
Dystonia, arm
Dystonia, cervical
Dystonia, leg
Show more (+5)
Dystonia, hand
p.Ser6Phe: het