| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
CAN
|
57
|
n.a.
|
n.a.
|
Anxiety
Hypoventilation respiratory complications Hyperreflexia Respiratory sighs Parkinsonism Depression Decreased body weight Saccadic abnormalities Gait difficulties/falls Atypical parkinsonism Hypomimia Spasticity/pyramidal signs Rigidity Show more (+10) |
Gait difficulties/falls
|
|
Yes
|
♂
|
n.a.
|
POL
|
45
|
48
|
n.a.
|
Autonomic sign/sympt.
Gait difficulties/falls Sleep disorder Asymmetric onset Tremor (any or unspecified) Dysphagia Dyskinesia Apathy fatigue Saccadic abnormalities Respiratory sighs Cognitive decline Epileptic seizures (of any type) Dysarthria Hypomimia Spasticity/pyramidal signs Tremor at rest Impulsive control disorder Hypoventilation respiratory complications Atypical parkinsonism Depression Parkinsonism Bradykinesia Show more (+19) |
Apathy fatigue
Bradykinesia |