| 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
Hypoventilation respiratory complications Rigidity Parkinsonism Bradykinesia Atypical parkinsonism Hypomimia Depression Decreased body weight Respiratory sighs Cognitive decline Dysarthria Show more (+9) |
Bradykinesia
Hypomimia Dysarthria |
|
Yes
|
♀
|
n.a.
|
KOR
|
43
|
51
|
n.a.
|
Depression
Dysphagia Bradykinesia Respiratory sighs Tremor (any or unspecified) Atypical parkinsonism Parkinsonism Hypoventilation respiratory complications Apathy fatigue Dysarthria Saccadic abnormalities Behavioral abnormalities Psychotic sign/sympt. Rigidity Decreased body weight Show more (+12) |
Depression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
KOR
|
51
|
51
|
n.a.
|
Gaze palsy
Rigidity Parkinsonism Bradykinesia Postural instability Atypical parkinsonism Primitive reflexes Show more (+4) |
Gaze palsy
|