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