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