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