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