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