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