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
Abnormality of skeletal morphology
Ataxia
Cognitive impairment
Dysarthria
Dystonia (any or unspecified)
Abnormal central motor function
Tremor (any or unspecified)
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n.a.
Yes
C
n.a.
2
15
No
Dysarthria
Dysmorphic features
Facial grimacing
Short stature
Choreoathetosis
Ataxia
Abnormal central motor function
Developmental regression
Mri brain abnormality
Upper motor neuron dysfunction
Dystonia (any or unspecified)
Dystonia, limb
Spasticity
Dystonia, lower face
Abnormality of skeletal morphology
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Developmental regression
Yes
n.a.
C
n.a.
n.a.
22
No
Muscular hypotonia
Dystonia (any or unspecified)
Global developmental delay
Abnormal central motor function
Mri brain abnormality
Dysarthria
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n.a.
Yes
n.a.
C
n.a.
n.a.
15
No
Dystonia (any or unspecified)
Mri brain abnormality
Parkinsonism
Global developmental delay
Dysmorphic features
Abnormal central motor function
Ophthalmologic abnormalities
Abnormality of skeletal morphology
Dysarthria
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n.a.