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