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