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