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