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