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