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