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