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