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