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