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