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