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
Apathy fatigue
Rigidity
Anxiety
Tremor (any or unspecified)
Behavioral abnormalities
Depression
Hallucinations
Cognitive decline
Atypical parkinsonism
Parkinsonism
Primitive reflexes
Decreased body weight
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Apathy fatigue
Depression
p.Gly71Glu: het
No
n.a.
n.a.
FRA
40
n.a.
n.a.
Cognitive decline
Psychotic sign/sympt.
Gait difficulties/falls
Behavioral abnormalities
Primitive reflexes
Hypoventilation respiratory complications
Parkinsonism
Respiratory sighs
Atypical parkinsonism
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Gait difficulties/falls
p.Gly71Glu: het
No
n.a.
n.a.
FRA
46
n.a.
n.a.
Parkinsonism
Rigidity
Apathy fatigue
Bradykinesia
Primitive reflexes
Dystonia
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Parkinsonism
p.Gly71Glu: het
Yes
n.a.
n.a.
FRA
59
n.a.
n.a.
Atypical parkinsonism
Gaze palsy
Apathy fatigue
Parkinsonism
Primitive reflexes
Rigidity
Bradykinesia
Dystonia
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Apathy fatigue
p.Gly71Glu: het