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