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