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