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.
Atypical parkinsonism
Dysarthria
Depression
Hypomimia
Rigidity
Decreased body weight
Cognitive decline
Parkinsonism
Respiratory sighs
Hypoventilation respiratory complications
Gait difficulties/falls
Bradykinesia
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Dysarthria
Hypomimia
Bradykinesia
p.Gly67Asp: het
Yes
n.a.
KOR
43
51
n.a.
Decreased body weight
Bradykinesia
Hypoventilation respiratory complications
Rigidity
Dysarthria
Behavioral abnormalities
Parkinsonism
Tremor (any or unspecified)
Psychotic sign/sympt.
Atypical parkinsonism
Respiratory sighs
Dysphagia
Apathy fatigue
Depression
Saccadic abnormalities
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Dysarthria
Depression
p.Gly71Arg: het
Yes
n.a.
KOR
51
51
n.a.
Postural instability
Atypical parkinsonism
Parkinsonism
Bradykinesia
Rigidity
Gaze palsy
Primitive reflexes
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Gaze palsy
p.Tyr78Cys: het