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