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