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