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