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