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