| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
KOR
|
53
|
56
|
n.a.
|
Hypomimia
Parkinsonism Decreased body weight Atypical parkinsonism Respiratory sighs Gait difficulties/falls Dysarthria Cognitive decline Hypoventilation respiratory complications Depression Rigidity Bradykinesia Show more (+9) |
Hypomimia
Dysarthria Bradykinesia |
|
Yes
|
♀
|
n.a.
|
KOR
|
43
|
51
|
n.a.
|
Psychotic sign/sympt.
Saccadic abnormalities Rigidity Depression Behavioral abnormalities Hypoventilation respiratory complications Decreased body weight Tremor (any or unspecified) Respiratory sighs Dysarthria Apathy fatigue Dysphagia Bradykinesia Atypical parkinsonism Parkinsonism Show more (+12) |
Depression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
KOR
|
51
|
51
|
n.a.
|
Gaze palsy
Rigidity Postural instability Atypical parkinsonism Bradykinesia Primitive reflexes Parkinsonism Show more (+4) |
Gaze palsy
|