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