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