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