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