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