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
Parkinsonism
Respiratory sighs
Hypoventilation respiratory complications
Rigidity
Postural instability
Behavioral abnormalities
Atypical parkinsonism
Hypomimia
Apraxia
Gait difficulties/falls
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Bradykinesia
p.Phe52Leu: het
No
A
JPN
70
74
n.a.
Decreased body weight
Respiratory sighs
Bradykinesia
Gait difficulties/falls
Tremor (any or unspecified)
Hypoventilation respiratory complications
Parkinsonism
Rigidity
Atypical parkinsonism
Show more (+6)
Bradykinesia
Gait difficulties/falls
p.Phe52Leu: het
No
A
JPN
53
59
n.a.
Bradykinesia
Gait difficulties/falls
Parkinsonism
Respiratory sighs
Hypoventilation respiratory complications
Atypical parkinsonism
Decreased body weight
Depression
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Bradykinesia
Depression
p.Phe52Leu: het