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