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