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