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