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