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