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