Tacik, 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
♂
C
USA
49
58
n.a.
Rigidity
Atypical parkinsonism
Hypoventilation respiratory complications
Apathy fatigue
Respiratory sighs
Depression
Tremor at rest
Sleep disorder
Bradykinesia
Tremor (any or unspecified)
Parkinsonism
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Apathy fatigue
p.Gly71Arg: het
Yes
♂
C
NZL
54
58
n.a.
Atypical parkinsonism
Tremor at rest
Cognitive decline
Parkinsonism
Apathy fatigue
Tremor (any or unspecified)
Hypomimia
Behavioral abnormalities
Decreased body weight
Respiratory sighs
Depression
Hypoventilation respiratory complications
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Apathy fatigue
Behavioral abnormalities
p.Tyr78Cys: het