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
Rigidity
Dyskinesia
Dysarthria/anarthria
Hypomimia
Psychotic sign/sympt.
Bradykinesia
Parkinsonism
NMS parkinsonism
Gait difficulties/falls
Postural instability
Atypical parkinsonism
Diurnal fluctuations
Oculogyric spasms
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Gait difficulties/falls
p.Arg498*: hom
No
n.a.
PAK
22
22
n.a.
Dystonia
Parkinsonism
Spasticity/pyramidal signs
Atypical parkinsonism
Dyskinesia
Bradykinesia
Cognitive decline
Psychotic sign/sympt.
Postural instability
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Bradykinesia
p.Arg498*: hom
No
n.a.
PAK
24
44
n.a.
Spasticity/pyramidal signs
Atypical parkinsonism
Parkinsonism
Gaze palsy
Bradykinesia
Cognitive decline
Cataracts
Psychotic sign/sympt.
Postural instability
Rigidity
Respiratory sighs
Dyskinesia
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Bradykinesia
p.Arg498*: hom
Yes
n.a.
PAK
17
22
n.a.
Spasticity/pyramidal signs
Bradykinesia
Parkinsonism
Rigidity
Apraxia
Psychotic sign/sympt.
Autonomic sign/sympt.
Dysarthria/anarthria
Cataracts
Gaze palsy
Respiratory sighs
Cognitive decline
Atypical parkinsonism
Postural instability
Dyskinesia
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Bradykinesia
Rigidity
p.Arg498*: hom