Caciotti, 2011: 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.
|
C
|
n.a.
|
4
|
10
|
No
|
Abnormality of skeletal morphology
Ataxia Abnormal central motor function Dysarthria Dystonia (any or unspecified) Tremor (any or unspecified) Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
2
|
15
|
No
|
Abnormal central motor function
Dysarthria Developmental regression Upper motor neuron dysfunction Dystonia (any or unspecified) Dystonia, lower face Dystonia, limb Mri brain abnormality Spasticity Short stature Facial grimacing Ataxia Abnormality of skeletal morphology Choreoathetosis Dysmorphic features Show more (+12) |
Developmental regression
|
|
Yes
|
n.a.
|
C
|
n.a.
|
n.a.
|
22
|
No
|
Global developmental delay
Dysarthria Abnormal central motor function Muscular hypotonia Mri brain abnormality Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
n.a.
|
C
|
n.a.
|
n.a.
|
15
|
No
|
Dystonia (any or unspecified)
Abnormality of skeletal morphology Dysmorphic features Mri brain abnormality Parkinsonism Global developmental delay Dysarthria Abnormal central motor function Ophthalmologic abnormalities Show more (+6) |
n.a.
|