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