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