Chung, 2014: Overview of all reported PARK-DCTN1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
KOR
53
56
n.a.
Hypomimia
Parkinsonism
Decreased body weight
Atypical parkinsonism
Respiratory sighs
Gait difficulties/falls
Dysarthria
Cognitive decline
Hypoventilation respiratory complications
Depression
Rigidity
Bradykinesia
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Hypomimia
Dysarthria
Bradykinesia
p.Gly67Asp: het
Yes
n.a.
KOR
43
51
n.a.
Psychotic sign/sympt.
Saccadic abnormalities
Rigidity
Depression
Behavioral abnormalities
Hypoventilation respiratory complications
Decreased body weight
Tremor (any or unspecified)
Respiratory sighs
Dysarthria
Apathy fatigue
Dysphagia
Bradykinesia
Atypical parkinsonism
Parkinsonism
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Depression
Dysarthria
p.Gly71Arg: het
Yes
n.a.
KOR
51
51
n.a.
Gaze palsy
Rigidity
Postural instability
Atypical parkinsonism
Bradykinesia
Primitive reflexes
Parkinsonism
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Gaze palsy
p.Tyr78Cys: het