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