Paisán-Ruiz, 2010: Overview of all reported PARK-FBXO7 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
TUR
17
n.a.
No
Postural instability
Parkinsonism
Dysarthria/anarthria
Psychotic sign/sympt.
Hypomimia
NMS parkinsonism
Gait difficulties/falls
Bradykinesia
Oculogyric spasms
Rigidity
Atypical parkinsonism
Dyskinesia
Diurnal fluctuations
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Gait difficulties/falls
p.Arg498*: hom
No
n.a.
PAK
22
22
n.a.
Atypical parkinsonism
Dystonia
Cognitive decline
Spasticity/pyramidal signs
Parkinsonism
Bradykinesia
Psychotic sign/sympt.
Dyskinesia
Postural instability
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Bradykinesia
p.Arg498*: hom
No
n.a.
PAK
24
44
n.a.
Parkinsonism
Postural instability
Gaze palsy
Bradykinesia
Rigidity
Dyskinesia
Atypical parkinsonism
Psychotic sign/sympt.
Cognitive decline
Respiratory sighs
Cataracts
Spasticity/pyramidal signs
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Bradykinesia
p.Arg498*: hom
Yes
n.a.
PAK
17
22
n.a.
Cognitive decline
Atypical parkinsonism
Respiratory sighs
Dyskinesia
Gaze palsy
Rigidity
Cataracts
Postural instability
Autonomic sign/sympt.
Dysarthria/anarthria
Psychotic sign/sympt.
Bradykinesia
Apraxia
Parkinsonism
Spasticity/pyramidal signs
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Rigidity
Bradykinesia
p.Arg498*: hom