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