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