Caroppo, 2014: Overview of all reported PARK-DCTN1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
FRA
39
n.a.
n.a.
Bradykinesia
Dyskinesia
Cognitive decline
Anxiety
Behavioral abnormalities
Decreased body weight
Hallucinations
Atypical parkinsonism
Parkinsonism
Depression
Primitive reflexes
Apathy fatigue
Rigidity
Tremor (any or unspecified)
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Depression
Apathy fatigue
p.Gly71Glu: het
No
n.a.
n.a.
FRA
40
n.a.
n.a.
Hypoventilation respiratory complications
Psychotic sign/sympt.
Gait difficulties/falls
Primitive reflexes
Respiratory sighs
Atypical parkinsonism
Cognitive decline
Parkinsonism
Behavioral abnormalities
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Gait difficulties/falls
p.Gly71Glu: het
No
n.a.
n.a.
FRA
46
n.a.
n.a.
Parkinsonism
Dystonia
Rigidity
Primitive reflexes
Bradykinesia
Apathy fatigue
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Parkinsonism
p.Gly71Glu: het
Yes
n.a.
n.a.
FRA
59
n.a.
n.a.
Gaze palsy
Atypical parkinsonism
Parkinsonism
Apathy fatigue
Rigidity
Bradykinesia
Primitive reflexes
Dystonia
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Apathy fatigue
p.Gly71Glu: het