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