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