Paisan-Ruiz, 2009: Overview of all reported DYT/PARK-PLA2G6-(NBIA) patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
IND
10
n.a.
n.a.
Dyskinesia
Abnormal central motor function
Parkinsonism
Tremor (any or unspecified)
Dystonia (any or unspecified)
Rigidity
Tremor, limb
Bradykinesia
Gait disturbance
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n.a.
Yes
n.a.
PAK
18
21
n.a.
Dystonia, foot
Cognitive impairment
Hyperreflexia
Dystonia (any or unspecified)
Gait disturbance
Autonomic sign/sympt.
Dystonia, axial
Rigidity
Spasticity
NMS parkinsonism
Mri brain other abnormalities
Datscan/trodat with evidence of dopaminergic deficit
Myoclonus
Pyramidal sign
Psychiatric disorders
Bradykinesia
Postural instability
Abnormal central motor function
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n.a.
Yes
n.a.
IND
26
34
No
Abnormal eye movement
Cognitive impairment
Postural tremor
Dystonia, limb
Dystonia (any or unspecified)
Dyskinesia
NMS parkinsonism
Mri brain other abnormalities
Dystonia, arm
Bradykinesia
Datscan/trodat with evidence of dopaminergic deficit
Dysarthria
Postural instability
Resting tremor
Pyramidal sign
Postural tremor, upper limb
Hand tremor
Hyperreflexia
Hypomimic face
Rigidity
Tremor (any or unspecified)
Depression
Tremor, limb
Dystonia, leg
Parkinsonism
Abnormal central motor function
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n.a.