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