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