Paisan-Ruiz, 2009: Overview of all reported DYT/PARK-PLA2G6 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.
Tremor (any or unspecified)
Dyskinesia
Bradykinesia
Tremor, limb
Parkinsonism
Gait disturbance
Abnormal central motor function
Dystonia (any or unspecified)
Rigidity
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n.a.
Yes
n.a.
PAK
18
21
n.a.
Abnormal central motor function
Dystonia, axial
Cognitive impairment
Psychiatric disorders
Bradykinesia
Myoclonus
Dystonia, foot
Datscan/trodat with evidence of dopaminergic deficit
Pyramidal sign
NMS parkinsonism
Mri brain other abnormalities
Spasticity
Postural instability
Autonomic sign/sympt.
Hyperreflexia
Dystonia (any or unspecified)
Gait disturbance
Rigidity
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n.a.
Yes
n.a.
IND
26
34
No
Dyskinesia
Dysarthria
NMS parkinsonism
Tremor (any or unspecified)
Bradykinesia
Datscan/trodat with evidence of dopaminergic deficit
Pyramidal sign
Hand tremor
Abnormal central motor function
Dystonia, arm
Tremor, limb
Dystonia (any or unspecified)
Hyperreflexia
Abnormal eye movement
Hypomimic face
Dystonia, limb
Postural tremor
Dystonia, leg
Depression
Parkinsonism
Postural tremor, upper limb
Rigidity
Postural instability
Cognitive impairment
Resting tremor
Mri brain other abnormalities
Show more (+23)
n.a.