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