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