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