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