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