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