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