Araki, 2014: Overview of all reported PARK-DCTN1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♀
A
JPN
48
69
n.a.
Rigidity
Gait difficulties/falls
Atypical parkinsonism
Parkinsonism
Postural instability
Bradykinesia
Apraxia
Respiratory sighs
Behavioral abnormalities
Hypoventilation respiratory complications
Hypomimia
Show more (+8)
Bradykinesia
p.Phe52Leu: het
No
♀
A
JPN
70
74
n.a.
Tremor (any or unspecified)
Atypical parkinsonism
Parkinsonism
Bradykinesia
Hypoventilation respiratory complications
Gait difficulties/falls
Respiratory sighs
Rigidity
Decreased body weight
Show more (+6)
Bradykinesia
Gait difficulties/falls
p.Phe52Leu: het
No
♂
A
JPN
53
59
n.a.
Depression
Respiratory sighs
Hypoventilation respiratory complications
Atypical parkinsonism
Decreased body weight
Gait difficulties/falls
Parkinsonism
Bradykinesia
Show more (+5)
Depression
Bradykinesia
p.Phe52Leu: het