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