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