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