Deodato, 2017: 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
|
♀
|
C
|
ITA
|
4
|
8
|
n.a.
|
Rigidity
Anarthria Bradykinesia Sleep disorder Dysarthria Cognitive impairment Abnormal central motor function Dystonia (any or unspecified) Dystonia, limb Parkinsonism Ataxia Delayed speech and language development Delayed fine motor development Abnormality of skeletal morphology Postural instability Dysmorphic features Global developmental delay Motor delay Developmental regression Delayed gross motor development Show more (+17) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
10
|
n.a.
|
Dysarthria
Postural instability Sleep disorder Delayed gross motor development Mri brain abnormality Rigidity Ataxia Cognitive impairment Facial grimacing Abnormal central motor function Dystonia, lower face Bradykinesia Delayed speech and language development Dystonia, craniofacial Dysmorphic features Motor delay Dystonia (any or unspecified) Anarthria Developmental regression Dystonia, limb Parkinsonism Show more (+18) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
20
|
20
|
n.a.
|
Abnormality of skeletal morphology
Spasticity Hyperreflexia Postural instability Upper motor neuron dysfunction Parkinsonism Bradykinesia Ataxia Facial grimacing Dystonia, lower face Abnormal central motor function Dystonia, craniofacial Dystonia (any or unspecified) Developmental regression Dysarthria Delayed speech and language development Short stature Dysmorphic features Show more (+15) |
Developmental regression
Dysarthria |