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