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