Farrer, 2009: Overview of all reported PARK-DCTN1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
USA
54
n.a.
n.a.
Parkinsonism
Respiratory sighs
Bradykinesia
Hypoventilation respiratory complications
Decreased body weight
Show more (+2)
n.a.
p.Thr72Pro: het
No
n.a.
n.a.
CAN
47
48
n.a.
Respiratory sighs
Depression
Hypoventilation respiratory complications
Decreased body weight
Asymmetric onset
Bradykinesia
Atypical parkinsonism
Parkinsonism
Rigidity
Sleep disorder
Show more (+7)
Depression
Bradykinesia
Sleep disorder
p.Gly71Arg: het
Yes
n.a.
JPN
52
n.a.
n.a.
Parkinsonism
Bradykinesia
Respiratory sighs
Hypoventilation respiratory complications
Decreased body weight
Show more (+2)
n.a.
p.Gly71Ala: het
Yes
n.a.
JPN
47
n.a.
n.a.
Parkinsonism
Bradykinesia
Respiratory sighs
n.a.
p.Gly71Ala: het
No
n.a.
FRA
47
n.a.
n.a.
Respiratory sighs
Parkinsonism
Decreased body weight
Bradykinesia
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly71Glu: het
No
n.a.
CAN
50
n.a.
n.a.
Hypoventilation respiratory complications
Atypical parkinsonism
Bradykinesia
Respiratory sighs
Parkinsonism
Decreased body weight
Show more (+3)
n.a.
p.Gly71Arg: het
Yes
n.a.
JPN
61
n.a.
n.a.
Hypomimia
Hypoventilation respiratory complications
Tremor at rest
Decreased body weight
Tremor (any or unspecified)
Respiratory sighs
Atypical parkinsonism
Postural instability
Bradykinesia
Gait difficulties/falls
Parkinsonism
Rigidity
Autonomic sign/sympt.
Show more (+10)
Tremor (any or unspecified)
p.Gln74Pro: het
No
n.a.
JPN
49
n.a.
n.a.
Bradykinesia
Hypoventilation respiratory complications
Respiratory sighs
Decreased body weight
Parkinsonism
Show more (+2)
n.a.
p.Gly71Ala: het
No
n.a.
JPN
43
n.a.
n.a.
Decreased body weight
Respiratory sighs
Parkinsonism
Bradykinesia
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly71Ala: het
Yes
n.a.
CAN
53
n.a.
n.a.
Bradykinesia
Respiratory sighs
Decreased body weight
Parkinsonism
Hypoventilation respiratory complications
Atypical parkinsonism
Show more (+3)
n.a.
p.Gly71Arg: het