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