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