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