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