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