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