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