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