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