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