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