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