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