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