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.
|
Autonomic sign/sympt.
Swallowing disorder Rigidity Asymmetric onset Tremor at rest Cognitive decline Spasticity/pyramidal signs Motor fluctuations Dyskinesia Gait difficulties/falls Tremor (any or unspecified) NMS parkinsonism Bradykinesia Dystonia Atypical parkinsonism Hyperreflexia Parkinsonism Show more (+14) |
Rigidity
Bradykinesia Dystonia |
|
Yes
|
♀
|
n.a.
|
TUR
|
n.a.
|
n.a.
|
n.a.
|
Hallucinations
Cognitive decline Swallowing disorder Cerebral atrophy Atypical parkinsonism Psychotic sign/sympt. Dysphagia Incontinence Parkinsonism Depression Hyperreflexia Rigidity Postural instability Decreased body weight Gait difficulties/falls Asymmetric onset NMS parkinsonism Autonomic sign/sympt. Bradykinesia Show more (+16) |
Depression
Rigidity Bradykinesia |
|
Yes
|
♀
|
n.a.
|
FRA
|
25
|
n.a.
|
n.a.
|
Asymmetric onset
Parkinsonism Swallowing disorder Hyperreflexia Spasticity/pyramidal signs Cognitive decline Dystonia Dysphagia Tremor (any or unspecified) Bradykinesia Rigidity NMS parkinsonism Gait difficulties/falls Atypical parkinsonism Show more (+11) |
Dystonia
Bradykinesia Rigidity |