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