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