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