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.
|
|
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.
|
|
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
|
|
Yes
|
♀
|
C
|
GBR
|
17
|
56
|
Yes
|
Dystonia, focal
Dystonia (any or unspecified) Depression Dystonia, oromandibular Dystonia, craniofacial Dystonia, laryngeal Show more (+3) |
n.a.
|
|
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
|