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