Di Fonzo, 2009: Overview of all reported PARK-FBXO7 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
NLD
18
n.a.
Yes
Behavioral abnormalities
Dyskinesia
Tremor, action
Motor fluctuations
Rigidity
Bradykinesia
Atypical parkinsonism
Saccadic abnormalities
Tremor (any or unspecified)
Spasticity/pyramidal signs
Parkinsonism
Gaze palsy
Postural instability
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Tremor (any or unspecified)
Yes
C
NLD
19
n.a.
Yes
Postural instability
Bradykinesia
Tremor (any or unspecified)
Tremor, action
Tremor at rest
Motor fluctuations
Atypical parkinsonism
Parkinsonism
Dyskinesia
Dysphagia
Spasticity/pyramidal signs
Rigidity
Behavioral abnormalities
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Bradykinesia
No
C
ITA
13
n.a.
Yes
Atypical parkinsonism
Spasticity/pyramidal signs
Tremor, action
Gaze palsy
Tremor at rest
Incontinence
Dysarthria anarthria
Saccadic abnormalities
Behavioral abnormalities
Bradykinesia
Dysphagia
Dystonia
Tremor (any or unspecified)
Motor fluctuations
Postural instability
Rigidity
Parkinsonism
Dyskinesia
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Tremor (any or unspecified)
Rigidity
p.Arg498*: het
Yes
C
ITA
10
n.a.
Yes
Dysphagia
Postural instability
Motor fluctuations
Tremor at rest
Dystonia
Behavioral abnormalities
Rigidity
Bradykinesia
Spasticity/pyramidal signs
Atypical parkinsonism
Tremor, action
Incontinence
Micrographia
Parkinsonism
Dysarthria anarthria
Dyskinesia
Tremor (any or unspecified)
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Tremor (any or unspecified)
p.Arg498*: het