| 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.
|
Respiratory sighs
Spasticity/pyramidal signs Saccadic abnormalities Depression Hyperreflexia Rigidity Anxiety Hypoventilation respiratory complications Parkinsonism Atypical parkinsonism Decreased body weight Gait difficulties/falls Hypomimia Show more (+10) |
Gait difficulties/falls
|
|
Yes
|
♂
|
n.a.
|
POL
|
45
|
48
|
n.a.
|
Hypomimia
Atypical parkinsonism Dysarthria Saccadic abnormalities Bradykinesia Parkinsonism Impulsive control disorder Spasticity/pyramidal signs Cognitive decline Apathy fatigue Autonomic sign/sympt. Asymmetric onset Tremor (any or unspecified) Respiratory sighs Hypoventilation respiratory complications Sleep disorder Tremor at rest Depression Epileptic seizures (of any type) Dyskinesia Gait difficulties/falls Dysphagia Show more (+19) |
Bradykinesia
Apathy fatigue |