| 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 Hypoventilation respiratory complications Gait difficulties/falls Apraxia Hypomimia Atypical parkinsonism Postural instability Rigidity Behavioral abnormalities Bradykinesia Show more (+8) |
Bradykinesia
|
|
No
|
♀
|
A
|
JPN
|
70
|
74
|
n.a.
|
Parkinsonism
Atypical parkinsonism Decreased body weight Respiratory sighs Hypoventilation respiratory complications Rigidity Gait difficulties/falls Bradykinesia Tremor (any or unspecified) Show more (+6) |
Gait difficulties/falls
Bradykinesia |
|
No
|
♂
|
A
|
JPN
|
53
|
59
|
n.a.
|
Decreased body weight
Respiratory sighs Atypical parkinsonism Gait difficulties/falls Parkinsonism Depression Hypoventilation respiratory complications Bradykinesia Show more (+5) |
Depression
Bradykinesia |