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