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