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