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