Kannebley, 2015: Overview of all reported DYT/PARK-GLB1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Upper motor neuron dysfunction
Dysphagia Dysarthria Abnormal central motor function Short stature Dystonia, lower face Amyotrophy Ophthalmologic abnormalities Dystonia (any or unspecified) Facial grimacing Dystonia, craniofacial Dystonia, limb Abnormality of skeletal morphology Show more (+10) |
Abnormality of skeletal morphology
|
|
Yes
|
♀
|
n.a.
|
BRA
|
17
|
n.a.
|
No
|
Cognitive impairment
Dystonia (any or unspecified) Facial grimacing Dystonia, lower face Abnormality of skeletal morphology Short stature Dystonia, craniofacial Dysarthria Amyotrophy Dystonia, limb Dysphagia Abnormal central motor function Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Abnormality of skeletal morphology
Abnormal central motor function Developmental regression Dystonia, lower face Dystonia, craniofacial Short stature Dystonia (any or unspecified) Facial grimacing Dystonia, limb Dysarthria Show more (+7) |
Developmental regression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dysarthria Dystonia, craniofacial Dystonia, lower face Gait disturbance Dysphagia Upper motor neuron dysfunction Abnormality of skeletal morphology Facial grimacing Dystonia, limb Amyotrophy Abnormal central motor function Short stature Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Amyotrophy
Dystonia, lower face Dysarthria Dystonia, limb Dystonia (any or unspecified) Developmental regression Facial grimacing Short stature Dystonia, craniofacial Upper motor neuron dysfunction Abnormality of skeletal morphology Abnormal central motor function Show more (+9) |
Dysarthria
Developmental regression |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Upper motor neuron dysfunction
Amyotrophy Facial grimacing Abnormal central motor function Abnormality of skeletal morphology Gait disturbance Developmental regression Dystonia, craniofacial Ataxia Short stature Dystonia (any or unspecified) Dysarthria Dystonia, limb Dysphagia Dystonia, lower face Show more (+12) |
Gait disturbance
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia, craniofacial
Abnormal central motor function Amyotrophy Global developmental delay Abnormality of skeletal morphology Short stature Dysarthria Upper motor neuron dysfunction Dystonia (any or unspecified) Dysphagia Facial grimacing Dystonia, lower face Dystonia, limb Show more (+10) |
Global developmental delay
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Global developmental delay
Upper motor neuron dysfunction Dysarthria Amyotrophy Short stature Facial grimacing Dystonia, lower face Dystonia, limb Gait disturbance Dystonia, craniofacial Abnormal central motor function Dystonia (any or unspecified) Abnormality of skeletal morphology Dysphagia Show more (+11) |
Global developmental delay
Gait disturbance |