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