Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
POL
|
1
|
28
|
n.a.
|
Swallowing disorder
Hyperreflexia Dysphagia Parkinsonism Bradykinesia Dysarthria/anarthria Hallucinations Rigidity Vertical gaze palsy Hypomimia Tremor (any or unspecified) Saccadic abnormalities Intellectual developmental disorder Cognitive decline Cerebral atrophy Primitive reflexes Atypical parkinsonism Gait difficulties/falls Developmental delay/intellectual disability Spasticity/pyramidal signs Psychotic sign/sympt. Minimyoclonus Show more (+19) |
n.a.
|