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