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