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