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