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