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