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