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
Yes
n.a.
USA
41
42
n.a.
Hypomimia
Postural instability
Hypoventilation respiratory complications
Atypical parkinsonism
Respiratory sighs
Apathy fatigue
Parkinsonism
Bradykinesia
Decreased body weight
Sleep disorder
Rigidity
Tremor (any or unspecified)
Behavioral abnormalities
Show more (+10)
Apathy fatigue
Sleep disorder
Tremor (any or unspecified)
p.Thr72Pro: het
No
n.a.
CAN
52
n.a.
n.a.
Parkinsonism
Decreased body weight
Atypical parkinsonism
Respiratory sighs
Bradykinesia
Hypoventilation respiratory complications
Show more (+3)
n.a.
p.Gly71Arg: het
Yes
n.a.
FRA
56
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.
JPN
47
n.a.
n.a.
Parkinsonism
Respiratory sighs
Bradykinesia
n.a.
p.Gly71Ala: het
Yes
n.a.
TUR
46
50
n.a.
Respiratory sighs
Tremor at rest
Hypoventilation respiratory complications
Parkinsonism
Tremor (any or unspecified)
Dysarthria
Decreased body weight
Atypical parkinsonism
Apathy fatigue
Depression
Bradykinesia
Show more (+8)
Apathy fatigue
Depression
p.Gly71Arg: het
No
n.a.
FRA
48
n.a.
n.a.
Bradykinesia
Parkinsonism
Decreased body weight
Respiratory sighs
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly71Glu: het
No
n.a.
TUR
51
53
n.a.
Postural instability
Apathy fatigue
Sleep disorder
Hypoventilation respiratory complications
Behavioral abnormalities
Impulsive control disorder
Cognitive decline
Bradykinesia
Respiratory sighs
Parkinsonism
Decreased body weight
Primitive reflexes
Atypical parkinsonism
Psychotic sign/sympt.
Hypomimia
Rigidity
Show more (+13)
Apathy fatigue
Sleep disorder
Bradykinesia
p.Gly71Arg: het
Yes
n.a.
n.a.
n.a.
49
n.a.
No
Decreased body weight
Parkinsonism
Respiratory sighs
Bradykinesia
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly15Ser: het
No
n.a.
n.a.
CAN
54
56
n.a.
Parkinsonism
Depression
Decreased body weight
Respiratory sighs
Anxiety
Tremor at rest
Atypical parkinsonism
Hypoventilation respiratory complications
Asymmetric onset
Rigidity
Bradykinesia
Tremor (any or unspecified)
Show more (+9)
Depression
Anxiety
p.Gly71Arg: het
No
n.a.
JPN
38
n.a.
n.a.
Respiratory sighs
Bradykinesia
Decreased body weight
Parkinsonism
Hypoventilation respiratory complications
Show more (+2)
n.a.
p.Gly71Ala: het