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
Hypomimia
Atypical parkinsonism
Postural instability
Apraxia
Hypoventilation respiratory complications
Gait difficulties/falls
Respiratory sighs
Parkinsonism
Behavioral abnormalities
Bradykinesia
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Bradykinesia
p.Phe52Leu: het
No
A
JPN
70
74
n.a.
Decreased body weight
Respiratory sighs
Atypical parkinsonism
Hypoventilation respiratory complications
Rigidity
Gait difficulties/falls
Bradykinesia
Tremor (any or unspecified)
Parkinsonism
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Gait difficulties/falls
Bradykinesia
p.Phe52Leu: het
No
A
JPN
53
59
n.a.
Parkinsonism
Hypoventilation respiratory complications
Atypical parkinsonism
Bradykinesia
Decreased body weight
Gait difficulties/falls
Depression
Respiratory sighs
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Bradykinesia
Depression
p.Phe52Leu: het