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