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