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
ITA
13
n.a.
n.a.
Dyskinesia
Gaze palsy
Dysphagia
Tremor (any or unspecified)
NMS parkinsonism
Saccadic abnormalities
Dystonia
Tremor at rest
Motor fluctuations
Behavioral abnormalities
Tremor, action
Incontinence
Parkinsonism
Atypical parkinsonism
Bradykinesia
Rigidity
Dysarthria/anarthria
Postural instability
Spasticity/pyramidal signs
Show more (+16)
Tremor (any or unspecified)
Rigidity
p.Arg498*: hom
Yes
C
ITA
10
n.a.
n.a.
Bradykinesia
Tremor at rest
Parkinsonism
Dysphagia
Tremor (any or unspecified)
Dystonia
Incontinence
Micrographia
Postural instability
Rigidity
NMS parkinsonism
Atypical parkinsonism
Dysarthria/anarthria
Tremor, action
Dyskinesia
Spasticity/pyramidal signs
Behavioral abnormalities
Motor fluctuations
Show more (+15)
Tremor (any or unspecified)
Rigidity
p.Arg498*: hom
Yes
C
NLD
19
n.a.
n.a.
NMS parkinsonism
Dysphagia
Postural instability
Behavioral abnormalities
Tremor at rest
Rigidity
Atypical parkinsonism
Dyskinesia
Motor fluctuations
Spasticity/pyramidal signs
Tremor, action
Tremor (any or unspecified)
Bradykinesia
Parkinsonism
Show more (+11)
Behavioral abnormalities
Bradykinesia
No
C
NLD
18
n.a.
n.a.
Dyskinesia
Saccadic abnormalities
Tremor (any or unspecified)
Postural instability
Tremor, action
Bradykinesia
Motor fluctuations
Gaze palsy
Behavioral abnormalities
Parkinsonism
Spasticity/pyramidal signs
Rigidity
Atypical parkinsonism
Show more (+10)
Tremor (any or unspecified)
Behavioral abnormalities