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