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.
Hypoventilation respiratory complications
Bradykinesia
Respiratory sighs
Parkinsonism
Decreased body weight
Show more (+2)
n.a.
p.Thr72Pro: het
No
n.a.
n.a.
CAN
47
48
n.a.
Respiratory sighs
Asymmetric onset
Rigidity
Bradykinesia
Decreased body weight
Hypoventilation respiratory complications
Sleep disorder
Depression
Parkinsonism
Atypical parkinsonism
Show more (+7)
Bradykinesia
Sleep disorder
Depression
p.Gly71Arg: het
Yes
n.a.
JPN
52
n.a.
n.a.
Bradykinesia
Respiratory sighs
Decreased body weight
Parkinsonism
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly71Ala: het
Yes
n.a.
JPN
47
n.a.
n.a.
Respiratory sighs
Parkinsonism
Bradykinesia
n.a.
p.Gly71Ala: het
No
n.a.
FRA
47
n.a.
n.a.
Respiratory sighs
Bradykinesia
Hypoventilation respiratory complications
Parkinsonism
Decreased body weight
Show more (+2)
n.a.
p.Gly71Glu: het
No
n.a.
CAN
50
n.a.
n.a.
Respiratory sighs
Hypoventilation respiratory complications
Decreased body weight
Bradykinesia
Atypical parkinsonism
Parkinsonism
Show more (+3)
n.a.
p.Gly71Arg: het
Yes
n.a.
JPN
61
n.a.
n.a.
Bradykinesia
Parkinsonism
Decreased body weight
Autonomic sign/sympt.
Gait difficulties/falls
Rigidity
Tremor (any or unspecified)
Respiratory sighs
Hypomimia
Tremor at rest
Hypoventilation respiratory complications
Atypical parkinsonism
Postural instability
Show more (+10)
Tremor (any or unspecified)
p.Gln74Pro: het
No
n.a.
JPN
49
n.a.
n.a.
Hypoventilation respiratory complications
Parkinsonism
Bradykinesia
Decreased body weight
Respiratory sighs
Show more (+2)
n.a.
p.Gly71Ala: het
No
n.a.
JPN
43
n.a.
n.a.
Respiratory sighs
Hypoventilation respiratory complications
Parkinsonism
Bradykinesia
Decreased body weight
Show more (+2)
n.a.
p.Gly71Ala: het
Yes
n.a.
CAN
53
n.a.
n.a.
Hypoventilation respiratory complications
Respiratory sighs
Decreased body weight
Atypical parkinsonism
Parkinsonism
Bradykinesia
Show more (+3)
n.a.
p.Gly71Arg: het