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
Bradykinesia
Postural instability
Rigidity
Parkinsonism
Hypoventilation respiratory complications
Atypical parkinsonism
Hypomimia
Gait difficulties/falls
Respiratory sighs
Behavioral abnormalities
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Bradykinesia
p.Phe52Leu: het
No
A
JPN
70
74
n.a.
Gait difficulties/falls
Parkinsonism
Decreased body weight
Atypical parkinsonism
Bradykinesia
Rigidity
Respiratory sighs
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.
Decreased body weight
Bradykinesia
Gait difficulties/falls
Hypoventilation respiratory complications
Atypical parkinsonism
Depression
Parkinsonism
Respiratory sighs
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Bradykinesia
Depression
p.Phe52Leu: het