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