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