Lesage, 2016: Overview of all reported PARK-VPS13C patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
FRA
|
33
|
n.a.
|
n.a.
|
Cognitive decline
NMS parkinsonism Motor fluctuations Rigidity Bradykinesia Tremor (any or unspecified) Tremor at rest Asymmetric onset Parkinsonism Atypical parkinsonism Dystonia Autonomic sign/sympt. Spasticity/pyramidal signs Swallowing disorder Gait difficulties/falls Hyperreflexia Dyskinesia Show more (+14) |
Rigidity
Bradykinesia Dystonia |
|
Yes
|
♀
|
n.a.
|
TUR
|
n.a.
|
n.a.
|
n.a.
|
Bradykinesia
NMS parkinsonism Hallucinations Cognitive decline Atypical parkinsonism Incontinence Swallowing disorder Postural instability Dysphagia Gait difficulties/falls Hyperreflexia Autonomic sign/sympt. Psychotic sign/sympt. Parkinsonism Cerebral atrophy Decreased body weight Rigidity Depression Asymmetric onset Show more (+16) |
Bradykinesia
Rigidity Depression |
|
Yes
|
♀
|
n.a.
|
FRA
|
25
|
n.a.
|
n.a.
|
Spasticity/pyramidal signs
Swallowing disorder Parkinsonism Cognitive decline Dystonia Asymmetric onset Dysphagia Tremor (any or unspecified) Bradykinesia Gait difficulties/falls Rigidity Hyperreflexia NMS parkinsonism Atypical parkinsonism Show more (+11) |
Dystonia
Bradykinesia Rigidity |