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