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