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