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