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